A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672929



Internal ID9939034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:60047208..60064657hg38UCSC Ensembl
chr16:60081112..60098561hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3817450
hg1917450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv501e199
Supporting Variantsessv5963089, essv6007433, essv6061717, essv5697181, essv5809221, essv5640267, essv6558773, essv5756204, essv6333649, essv5615561, essv6449282, essv5518329, essv6305055, essv6475208, essv6332404, essv6173101, essv6584395, essv5946305, essv5658332, essv5406967, essv6457129, essv6168232, essv6047911
SamplesHG00442, HG00592, NA19055, HG00608, HG01461, HG00654, NA19782, NA19720, NA18544, HG00428, HG01095, NA19776, NA19064, NA19625, NA19003, HG01357, HG01174, HG01137, HG00513, HG01491, NA19716, NA18552, HG01082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672929
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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