A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10239601



Internal ID3795334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192819583..192830599hg38UCSC Ensembl
Innerchr1:192819629..192830554hg38UCSC Ensembl
Outerchr1:192819538..192830645hg38UCSC Ensembl
chr1:192788713..192799729hg19UCSC Ensembl
Innerchr1:192788759..192799684hg19UCSC Ensembl
Outerchr1:192788668..192799775hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3811017
hg1911017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588361
Supporting Variants
SamplesHG03442
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10239601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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