A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11020107



Internal ID3324569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57305332..57306508hg38UCSC Ensembl
Innerchr3:57305335..57306505hg38UCSC Ensembl
Outerchr3:57305329..57306511hg38UCSC Ensembl
chr3:57339360..57340536hg19UCSC Ensembl
Innerchr3:57339363..57340533hg19UCSC Ensembl
Outerchr3:57339357..57340539hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596228
Supporting Variants
SamplesHG02971
Known GenesDNAH12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11020107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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