A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819942



Internal ID10219553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:93231022..93231637hg38UCSC Ensembl
Outerchr13:93883275..93883890hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747828
Supporting Variants
SamplesSSM078
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)essv6819942
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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