A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10932596



Internal ID2554199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14548332..14569825hg38UCSC Ensembl
Innerchr3:14548482..14569675hg38UCSC Ensembl
Outerchr3:14548182..14569975hg38UCSC Ensembl
chr3:14589839..14611332hg19UCSC Ensembl
Innerchr3:14589989..14611182hg19UCSC Ensembl
Outerchr3:14589689..14611482hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3821494
hg1921494
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595370
Supporting Variants
SamplesHG02266
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10932596
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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