A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663792



Internal ID9929897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149331640..149332400hg38UCSC Ensembl
Outerchr5:149331601..149332457hg38UCSC Ensembl
Innerchr5:148711203..148711963hg19UCSC Ensembl
Outerchr5:148711164..148712020hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6293501, essv5497077, essv5703294, essv5461385, essv5414412, essv6496459, essv6519260, essv6103345, essv6061716, essv5851609, essv5719829, essv5474978, essv5818278, essv5660953, essv5625883, essv5741316, essv5632114, essv6575849, essv6270042, essv5417488, essv6582022, essv6214654, essv5756895, essv6121345, essv5661472, essv5481663, essv5833549, essv6205615, essv6260769, essv6142392, essv5845090, essv6528447, essv5821448, essv5589874, essv5826409, essv5802893, essv6100038, essv6480509, essv5708412, essv5632552, essv5592638, essv5535813, essv6175887, essv6247941, essv5773790, essv5739645, essv5476500, essv6305271, essv6289695, essv5738368, essv6507072, essv5897917, essv5856162, essv6257635, essv5447263, essv6471126, essv5702935, essv6365528, essv6343214, essv6335986, essv5660089, essv6579000, essv5677410, essv6296490, essv5929301, essv5453689, essv5985507, essv5896730, essv6477608, essv5572953, essv5543116, essv6551639, essv6524031, essv5660753, essv6178935, essv5680681, essv6033459, essv6313154, essv5592685, essv5457953, essv5399785, essv5449532, essv5738705, essv6134587, essv6419334, essv5640378, essv5517678, essv5544546, essv5878186, essv5401966, essv6577506, essv5950188, essv6488084, essv5513473, essv5962100, essv6574502, essv6584627, essv6416502, essv6030135, essv6461970, essv5975213, essv6158785, essv5529216, essv6570729, essv6028823, essv5924241, essv6381369, essv6245990, essv6574061, essv6551297, essv5847616, essv6469942, essv6409657, essv6025121, essv5909161, essv5745942, essv5828872, essv5635160, essv6265398, essv5689457, essv5443673, essv5577796, essv6101584, essv6502247, essv6115858, essv6463047, essv6286245, essv6089394, essv6014745, essv5991503, essv6584311, essv6420224, essv6598335, essv6516747, essv6162769, essv6345398, essv6092688, essv5446312, essv5763162, essv5918134, essv6463078, essv5444389, essv5855815, essv5541049, essv6358819, essv6182176, essv6153174, essv5553417, essv5553526, essv6404668, essv5636830, essv5454565, essv5644782, essv5983992, essv5769768, essv6072842, essv5802464, essv5582259, essv6447582, essv6354153, essv6116892, essv5519200, essv6427924, essv6420155, essv5472166, essv5982847, essv6268202, essv5709381, essv6455948, essv6108546, essv5533378, essv5467767, essv6580237, essv5734844, essv6347713, essv6337676, essv6594947, essv6479378, essv6345167, essv6511948, essv5865330, essv5506355, essv5551621, essv6328345, essv5826449, essv6071860, essv5799321, essv6097258, essv5934648, essv6530643
SamplesNA12383, NA19648, NA19058, NA18947, NA12286, NA18861, NA18508, HG01359, NA19399, NA19332, NA18980, HG01079, NA12843, HG00151, NA20816, NA20532, NA19350, NA19092, NA12751, HG00153, NA18545, NA19819, HG01456, NA18530, NA12058, HG00150, HG01461, NA19190, NA19920, NA20806, HG01140, HG00693, NA19107, HG00663, NA19068, HG00127, NA19381, NA18940, NA18550, NA18519, NA19382, NA19315, NA18597, NA18489, NA20798, NA20774, NA19723, NA18567, NA19916, NA20769, NA12348, HG00634, NA18574, NA19197, NA18582, HG01354, NA19457, NA19130, NA19079, HG01134, NA12282, NA20775, NA12156, NA20812, NA18868, NA11932, NA20340, NA19372, NA19235, NA19471, NA19087, NA19002, NA19901, NA18557, HG01048, NA20342, NA19985, NA18539, NA19921, NA11993, HG01124, HG01353, HG00133, NA19908, NA19247, HG00443, HG00282, NA19707, NA19070, NA20524, NA19403, HG00328, NA12342, NA20505, NA19462, NA19347, NA20809, NA20521, NA18910, NA18948, NA19776, HG01047, NA19654, HG01073, NA19114, NA19000, NA19449, NA19655, NA20581, NA12829, NA11894, NA20538, NA18856, NA12249, NA19453, HG00117, NA18853, NA19009, NA18963, NA19225, NA18523, NA20542, NA18858, NA18593, NA12546, NA18945, NA18576, HG00124, NA20773, NA20522, NA19440, NA18533, HG00254, NA19834, NA19147, NA18559, NA19434, NA19473, NA18950, HG00357, NA12272, HG00136, NA20804, NA19380, NA07051, NA12046, HG00473, NA19428, NA19324, HG01137, NA20803, NA12763, HG00125, NA19818, NA19398, NA18501, NA20582, NA19472, NA19779, NA20334, NA19713, NA19474, HG01055, NA18609, NA19102, NA18873, HG00131, NA19116, NA19213, HG00343, NA20528, NA19900, NA18983, HG01377, NA20502, NA19129, NA11892, NA19755, NA18488, HG01125, NA20322, NA18511, NA19063, NA19065, HG00180, NA19429, NA19346, NA18965, NA11832, HG01516
Known GenesAFAP1L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663792
Frequency
Sample Size1151
Observed Gain0
Observed Loss190
Observed Complex0
Frequencyn/a


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