A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13707117



Internal ID877486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17590956..17593604hg38UCSC Ensembl
Innerchr10:17591006..17593554hg38UCSC Ensembl
Outerchr10:17590876..17593684hg38UCSC Ensembl
chr10:17632955..17635603hg19UCSC Ensembl
Innerchr10:17633005..17635553hg19UCSC Ensembl
Outerchr10:17632875..17635683hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg382649
hg192649
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622493
Supporting Variants
SamplesHG00472
Known GenesPTPLA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13707117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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