A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888187



Internal ID9936341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113830503..113830858hg38UCSC Ensembl
Outerchr13:114533476..114533831hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748400, esv2748398
Supporting Variants
SamplesSSM096
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)essv6888187
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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