A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748941



Internal ID18376501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24696429..24696742hg38UCSC Ensembl
Outerchr13:24696368..24696772hg38UCSC Ensembl
Innerchr13:25270567..25270880hg19UCSC Ensembl
Outerchr13:25270506..25270910hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3550194
Supporting Variants
Samples
Known GenesATP12A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748941
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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