A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748412



Internal ID9982696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113841491..113841694hg38UCSC Ensembl
Outerchr13:114544464..114544667hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891484
SamplesSSM097
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)esv2748412
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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