A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677778



Internal ID9943883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73275857..73276887hg38UCSC Ensembl
chr2:73502985..73504015hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5975037, essv5676136, essv6481399, essv6266073, essv5772790, essv6081895, essv6186095, essv6275907, essv5700087, essv6509561, essv6226989, essv5863521, essv5885902, essv6517565, essv5488555, essv6179560, essv5476803, essv6099421, essv6338021, essv6549738, essv6174224, essv6313763, essv6203449, essv6305645, essv5814295, essv5820875
SamplesNA18980, NA18486, NA18967, NA18940, NA18550, NA19201, NA18942, NA18916, NA19904, NA18868, NA11993, NA18951, NA19210, NA18948, HG01101, NA18945, NA19108, NA18952, NA18517, NA19248, NA12749, NA18873, NA19129, NA18968, NA12154, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677778
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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