A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749899



Internal ID9984183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75795398..75806353hg38UCSC Ensembl
Outerchr15:76087739..76098694hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3810956
hg1910956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916510, essv6869553, essv6688627, essv6913008, essv6738202, essv6713367
SamplesSSM011, SSM050, SSM042, SSM035, SSM015, SSM016
Known Genes
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)esv2749899
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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