A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6773475



Internal ID10000512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30469476..30469837hg38UCSC Ensembl
Outerchr13:31043613..31043974hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747221, esv2747220
Supporting Variants
SamplesSSM008
Known Genes
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)essv6773475
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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