A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595951



Internal ID6983269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40539689..40542632hg38UCSC Ensembl
Innerchr3:40539722..40542600hg38UCSC Ensembl
Outerchr3:40539657..40542665hg38UCSC Ensembl
chr3:40581180..40584123hg19UCSC Ensembl
Innerchr3:40581213..40584091hg19UCSC Ensembl
Outerchr3:40581148..40584156hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382944
hg192944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10989215, essv10989213, essv10989214, essv10989216, essv10989217, essv10989212
SamplesNA20899, NA20894, HG03911, HG03814, NA20885, HG03711
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595951
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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