A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257892



Internal ID3772738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185777773..185784050hg38UCSC Ensembl
Innerchr3:185777787..185784037hg38UCSC Ensembl
Outerchr3:185777760..185784064hg38UCSC Ensembl
chr3:185495561..185501838hg19UCSC Ensembl
Innerchr3:185495575..185501825hg19UCSC Ensembl
Outerchr3:185495548..185501852hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg386278
hg196278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598972
Supporting Variants
SamplesHG03410
Known GenesIGF2BP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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