A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851737



Internal ID6440346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10194737..10197379hg38UCSC Ensembl
Innerchr1:10194763..10197354hg38UCSC Ensembl
Outerchr1:10194712..10197405hg38UCSC Ensembl
chr1:10254795..10257437hg19UCSC Ensembl
Innerchr1:10254821..10257412hg19UCSC Ensembl
Outerchr1:10254770..10257463hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382643
hg192643
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585198
Supporting Variants
SamplesNA20509
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851737
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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