A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6879655



Internal ID9928487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113831633..113831916hg38UCSC Ensembl
Outerchr13:114534606..114534889hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748404, esv2748403
Supporting Variants
SamplesSSM093
Known GenesGAS6, GAS6-AS1
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)essv6879655
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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