A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747706



Internal ID10328676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:79418981..79419426hg38UCSC Ensembl
Outerchr13:79993116..79993561hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772250, essv6846092, essv6807453, essv6977564, essv6876810, essv6949270, essv6920394
SamplesSSM024, SSM065, SSM009, SSM092, SSM029, SSM017, SSM085
Known GenesRBM26-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)esv2747706
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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