A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253017



Internal ID3423496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183468837..183692819hg38UCSC Ensembl
Innerchr3:183468987..183692669hg38UCSC Ensembl
Outerchr3:183468687..183692969hg38UCSC Ensembl
chr3:183186625..183410607hg19UCSC Ensembl
Innerchr3:183186775..183410457hg19UCSC Ensembl
Outerchr3:183186475..183410757hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38223983
hg19223983
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598924
Supporting Variants
SamplesHG03061
Known GenesKLHL24, KLHL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253017
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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