A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724904



Internal ID9959206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10950084..10950589hg38UCSC Ensembl
Outerchr3:10991770..10992275hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6892771, essv6730101, essv6700184, essv6906652, essv6942401, essv6726349, essv6686567, essv6929638, essv6968511, essv6773927, essv6933856, essv6921184, essv6962394, essv6781427
SamplesSSM027, SSM046, SSM039, SSM023, SSM028, SSM021, SSM047, SSM035, SSM003, SSM014, SSM066, SSM068, SSM020, SSM098
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)esv2724904
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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