A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257162



Internal ID1258978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184450977..184897567hg38UCSC Ensembl
Innerchr3:184451127..184897417hg38UCSC Ensembl
Outerchr3:184450827..184897717hg38UCSC Ensembl
chr3:184168765..184615355hg19UCSC Ensembl
Innerchr3:184168915..184615205hg19UCSC Ensembl
Outerchr3:184168615..184615505hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38446591
hg19446591
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598946
Supporting Variants
SamplesHG03061
Known GenesEPHB3, MAGEF1, VPS8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257162
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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