A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800479



Internal ID9856188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113830583..113830905hg38UCSC Ensembl
Outerchr13:114533556..114533878hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748400, esv2748398, esv2748402
Supporting Variants
SamplesSSM072
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)essv6800479
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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