A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748407



Internal ID9982691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113831893..113832175hg38UCSC Ensembl
Outerchr13:114534866..114535148hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv258e201
Supporting Variantsessv6691812, essv6838859, essv6977681
SamplesSSM036, SSM083, SSM029
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)esv2748407
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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