A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13373877



Internal ID1727767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:252465..489287hg38UCSC Ensembl
Innerchr9:252615..489137hg38UCSC Ensembl
Outerchr9:252315..489437hg38UCSC Ensembl
chr9:252465..489287hg19UCSC Ensembl
Innerchr9:252615..489137hg19UCSC Ensembl
Outerchr9:252315..489437hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38236823
hg19236823
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619179
Supporting Variants
SamplesHG01602
Known GenesDOCK8, KANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13373877
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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