A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676672



Internal ID9942777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:85552310..85557016hg38UCSC Ensembl
Outerchr16:85551939..85557386hg38UCSC Ensembl
Innerchr16:85585916..85590622hg19UCSC Ensembl
Outerchr16:85585545..85590992hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg385448
hg195448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6259519, essv5903388, essv6027492, essv6363247, essv5440666, essv6146485, essv6345337, essv5661994, essv6485261, essv5568148, essv6476510, essv6066357, essv5646075, essv6360181, essv5684003, essv5808581, essv6591410, essv5947420, essv5445377, essv6020744, essv5464247, essv6594724, essv6033475, essv6525583, essv5926910, essv5638210, essv5556546, essv5836385, essv5821243, essv6313514, essv6387253, essv5744970, essv5567978, essv6419669, essv5986196, essv5678370, essv6144781, essv5847385, essv5586940, essv6423509, essv6494297, essv6331564, essv6355991, essv6114240, essv6032340, essv5587353, essv5910223, essv6120199, essv5552023, essv6432646, essv5660672, essv6234856, essv6443549, essv6100974, essv6143237, essv5897159, essv6328353, essv5797944, essv5768771, essv6477356, essv5742170, essv6571591, essv5851498, essv6107743
SamplesNA20588, NA20766, NA20508, NA20514, NA20816, NA20813, NA20507, NA20771, NA20806, NA20814, NA20537, NA20796, NA20798, NA20589, NA20586, NA20774, NA20756, NA20513, NA20541, NA20759, NA20539, NA20518, NA20775, NA20812, NA20811, NA20757, NA20515, NA20753, NA20818, NA20535, NA20505, NA20809, NA20810, NA20536, NA20519, NA20525, NA20581, NA20538, NA20828, NA20542, NA20534, NA20765, NA20773, NA20522, NA20801, NA20815, NA20804, NA20520, NA20785, NA20790, NA20530, NA20778, NA20504, NA20544, NA20516, NA20582, NA20510, NA20807, NA20826, NA20503, 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)esv2676672
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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