A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747829



Internal ID10328799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:93231193..93231446hg38UCSC Ensembl
Outerchr13:93883446..93883699hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792040, essv6867510, essv6909078, essv6688499, essv6695767, essv6842637
SamplesSSM011, SSM084, SSM014, SSM005, SSM037, SSM070
Known GenesGPC6
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)esv2747829
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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