A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13806141



Internal ID3807957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52109583..52110146hg38UCSC Ensembl
Innerchr10:52109629..52110101hg38UCSC Ensembl
Outerchr10:52109538..52110192hg38UCSC Ensembl
chr10:53869343..53869906hg19UCSC Ensembl
Innerchr10:53869389..53869861hg19UCSC Ensembl
Outerchr10:53869298..53869952hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623242
Supporting Variants
SamplesNA20356
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13806141
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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