A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257979



Internal ID1259795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185910936..185991411hg38UCSC Ensembl
Innerchr3:185911086..185991261hg38UCSC Ensembl
Outerchr3:185910786..185991561hg38UCSC Ensembl
chr3:185628724..185709200hg19UCSC Ensembl
Innerchr3:185628874..185709050hg19UCSC Ensembl
Outerchr3:185628574..185709350hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3880476
hg1980477
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598980
Supporting Variants
SamplesHG03061
Known GenesLOC344887, TRA2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257979
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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