A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13806956



Internal ID3808772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52255977..52258492hg38UCSC Ensembl
Innerchr10:52255977..52258492hg38UCSC Ensembl
Outerchr10:52255977..52258492hg38UCSC Ensembl
chr10:54015737..54018252hg19UCSC Ensembl
Innerchr10:54015737..54018252hg19UCSC Ensembl
Outerchr10:54015737..54018252hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382516
hg192516
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623244
Supporting Variants
SamplesNA20509
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13806956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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