A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596059



Internal ID6983377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46396233..46397273hg38UCSC Ensembl
Innerchr3:46396233..46397273hg38UCSC Ensembl
Outerchr3:46395940..46397554hg38UCSC Ensembl
chr3:46437724..46438764hg19UCSC Ensembl
Innerchr3:46437724..46438764hg19UCSC Ensembl
Outerchr3:46437431..46439045hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10998878, essv10998879, essv10998882, essv10998883, essv10998880, essv10998887, essv10998881, essv10998884, essv10998885, essv10998886
SamplesHG01985, HG03241, NA20298, HG03073, HG03428, HG03382, HG01915, NA20281, NA19328, NA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596059
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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