A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663686



Internal ID9929791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43284936..43290442hg38UCSC Ensembl
Outerchr21:43284565..43290812hg38UCSC Ensembl
Innerchr21:44704816..44710322hg19UCSC Ensembl
Outerchr21:44704445..44710692hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386248
hg196248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5563977, essv5943994, essv5649312, essv6394587, essv5395777, essv5796953, essv6593801, essv5530339, essv5460157, essv6397658, essv6264195, essv6201099, essv5885165, essv5744051, essv5451120, essv5577519, essv5860348, essv5823152, essv5773761, essv6157770, essv6175455, essv5487454, essv5412832, essv6079937, essv5456541, essv6418677, essv6026389, essv6091675, essv6122287, essv6257123, essv5595357, essv5575156, essv6048107, essv5775902, essv6541790, essv5681861, essv6216297, essv5647979, essv5907492, essv5486714, essv5490222, essv5953870, essv5412517, essv6111910, essv5408828, essv6460867, essv5681541, essv6424841, essv5940446, essv5589373, essv5974478, essv5634045, essv6301683, essv6486391, essv6351069, essv6171532, essv5421504, essv6245672, essv6111776, essv6217599, essv6221542, essv6071727, essv6482068, essv5824236, essv5679931, essv6262538, essv6174246, essv5438640, essv5607548, essv5516780, essv6558561, essv5471618, essv6034966, essv5713917, essv6117654, essv5556052, essv6276169, essv6132387, essv6050439, essv5923331, essv6463159, essv5778883, essv5495918, essv5726008, essv6208552, essv5660019, essv5586417, essv5507388, essv5815035, essv6001692, essv6334158
SamplesNA20588, NA20761, NA20529, NA20543, NA20766, NA20508, NA20783, NA20514, NA20531, NA20816, NA20752, NA20802, NA20532, NA20512, NA20808, NA20517, NA20507, NA20771, NA20806, NA20814, NA20537, NA20796, NA20798, NA20589, NA20586, NA20774, NA20756, NA20795, NA20769, NA20768, NA20540, NA20513, NA20541, NA20759, NA20539, NA20518, NA20819, NA20775, NA20812, NA20811, NA20515, NA20755, NA20753, NA20818, NA20535, NA20800, NA20787, NA20524, NA20505, NA20809, NA20810, NA20760, NA20536, NA20506, NA20519, NA20770, NA20525, NA20581, NA20538, NA20542, NA20534, NA20765, NA20799, NA20773, NA20522, NA20801, NA20815, NA20804, NA20520, NA20785, NA20790, NA20530, NA20527, NA20792, NA20778, NA20504, NA20544, NA20516, NA20803, NA20797, NA20582, NA20510, NA20786, NA20807, NA20758, NA20826, NA20528, NA20502, NA20585, NA20754, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663686
Frequency
Sample Size1151
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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