A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11193190



Internal ID2118539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:156424404..156424956hg38UCSC Ensembl
Innerchr3:156424405..156424955hg38UCSC Ensembl
Outerchr3:156424403..156424957hg38UCSC Ensembl
chr3:156142193..156142745hg19UCSC Ensembl
Innerchr3:156142194..156142744hg19UCSC Ensembl
Outerchr3:156142192..156142746hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598302
Supporting Variants
SamplesHG01924
Known GenesKCNAB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11193190
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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