A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676039



Internal ID9942144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16124701..16125382hg38UCSC Ensembl
chr5:16124810..16125491hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5433314, essv6493515, essv5660543, essv5567550, essv6205896, essv5825009, essv5909824, essv6374390, essv5911736, essv5912415, essv5752617, essv5617803, essv5413003, essv5697390, essv6193769, essv5593099, essv5488983, essv6078315, essv5461399, essv5975857, essv5736244, essv6410213, essv5495012, essv5720983, essv6000908, essv6324511, essv5762997, essv6070309, essv6388529, essv5677468, essv6507068, essv6566658, essv6213608, essv6570665, essv5405138, essv5716174, essv5594313, essv6293185, essv5599215, essv5760128, essv6487287
SamplesHG00114, HG01356, HG00231, NA12286, HG00187, NA11931, HG00233, NA19777, NA12400, NA20771, NA12341, HG00337, HG00641, NA12891, HG01365, NA11930, HG00325, HG00338, HG00323, HG00133, HG01136, HG00154, NA18605, HG00183, HG00176, HG01384, NA12878, NA20344, NA18856, HG00276, NA19756, NA20534, HG01204, HG00124, HG00336, NA12272, HG00116, HG00267, HG00310, NA11843, NA12890
Known GenesMARCH11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676039
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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