A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747171



Internal ID9981455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25528581..25528817hg38UCSC Ensembl
Outerchr13:26102719..26102955hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959482, essv6787882
SamplesSSM069, SSM026
Known GenesATP8A2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747171
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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