A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658512



Internal ID9577931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3408736..3409178hg38UCSC Ensembl
chr1:3325300..3325742hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5761519, essv6226057, essv5514782, essv5922207, essv5825626, essv5640915, essv5912664, essv5793609, essv6360850, essv5428889, essv6472486, essv6185499, essv6153056, essv6300687, essv6436961, essv5711992, essv6140912, essv6515768, essv5415576, essv6239558, essv5825792, essv6189238, essv5751828, essv6168011, essv6468293, essv6430636, essv5461948, essv6396674, essv6205377, essv6375990, essv6521454, essv5570301, essv5405859, essv6295141, essv6562101, essv6161183, essv6415451, essv6371198, essv5875312, essv5753076, essv6111677, essv6426264, essv6554556, essv5536391, essv6229268, essv5694021, essv6497657, essv5473193, essv5512898, essv5990793, essv6537650, essv5981317, essv5931372, essv5492481, essv6342267, essv5608926, essv5707079, essv6286815, essv5827967, essv6556662, essv6062443, essv6421345, essv5895839, essv5827153, essv5906030, essv6432957, essv6576147, essv5416482, essv6579467, essv5488483, essv5546149, essv6101588, essv5457541, essv6207899, essv6349013, essv6065680, essv5683921, essv6293451, essv5680358, essv5987102, essv5612429, essv5962612, essv6238029, essv6472020, essv5544323, essv5442746, essv6180680, essv5561326, essv6145497, essv5965811
SamplesNA12827, NA19248, NA20787, NA20514, NA18595, NA20771, NA11930, NA20522, NA20809, NA20526, NA20785, HG00437, NA18570, NA12340, NA18545, NA19334, NA20816, NA18947, NA19920, NA20778, NA20786, NA20805, HG01204, NA07051, NA19682, NA11893, NA20798, NA20521, NA20803, NA18950, HG00342, NA20761, NA20585, NA18912, NA20533, NA20819, NA19652, NA20811, NA19471, NA19107, NA20783, NA20801, NA18956, NA18973, NA12830, NA19700, NA19684, HG00133, NA19247, NA19313, NA20760, NA12778, NA12348, NA20790, NA20795, NA18486, NA18522, NA19713, HG01170, NA11892, NA20828, NA19332, NA19789, NA18606, NA20525, NA20581, NA18597, NA20537, NA19078, NA20799, NA12889, NA18602, NA19818, NA19446, NA20507, NA20513, NA18548, HG00123, NA20812, NA12546, NA12842, NA18499, NA20792, NA11932, NA18853, NA19350, NA18908, NA19473, NA20806, NA18553
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658512
Frequency
Sample Size1151
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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