A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749847



Internal ID10156577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112803526..112804494hg38UCSC Ensembl
Outerchr13:113457840..113458808hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748187
Supporting Variants
SamplesSSM056
Known GenesATP11A
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)essv6749847
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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