A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676463



Internal ID9595882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62725554..62730194hg38UCSC Ensembl
chr3:62711229..62715869hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384641
hg194641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6403238, essv5709876, essv5616981, essv6501158, essv5710845, essv5767996, essv5549031, essv6117997, essv6103982, essv6325777, essv5756315, essv5477188, essv5914682, essv6516933, essv5889010
SamplesNA18870, NA18489, NA20340, NA19385, NA18908, NA19908, NA19210, NA18516, HG01149, NA18907, NA19774, NA19439, NA18501, NA19713, HG01378
Known GenesCADPS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676463
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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