A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726858



Internal ID9961166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2800769..2801240hg38UCSC Ensembl
Outerchr4:2802496..2802967hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872278, essv6767064, essv6922907, essv6777624, essv6748312, essv6697505, essv6962723
SamplesSSM027, SSM064, SSM038, SSM003, SSM067, SSM091, SSM056
Known GenesSH3BP2
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)esv2726858
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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