A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750002



Internal ID9984286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89416274..89418403hg38UCSC Ensembl
Outerchr15:89959505..89961634hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803807, essv6888334, essv6924786, essv6905324, essv6867725, essv6879802
SamplesSSM013, SSM073, SSM093, SSM018, SSM096, SSM089
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)esv2750002
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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