A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253019



Internal ID1325827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183548743..183549156hg38UCSC Ensembl
Innerchr3:183548744..183549156hg38UCSC Ensembl
Outerchr3:183548743..183549157hg38UCSC Ensembl
chr3:183266531..183266944hg19UCSC Ensembl
Innerchr3:183266532..183266944hg19UCSC Ensembl
Outerchr3:183266531..183266945hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598926
Supporting Variants
SamplesHG01170
Known GenesKLHL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253019
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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