A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726823



Internal ID10310459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1598872..1599554hg38UCSC Ensembl
Outerchr4:1600599..1601281hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6777620, essv6679865, essv6844463, essv6962713, essv6798230, essv6707889, essv6968721, essv6882886, essv6889630, essv6714956, essv6955986, essv6840676, essv6704469, essv6938400, essv6770249, essv6896343, essv6711285, essv6947223, essv6675912, essv6726544, essv6892951, essv6767059, essv6730313, essv6829651, essv6802147, essv6790476
SamplesSSM027, SSM024, SSM046, SSM064, SSM065, SSM097, SSM009, SSM073, SSM042, SSM041, SSM028, SSM084, SSM047, SSM026, SSM032, SSM067, SSM033, SSM085, SSM081, SSM040, SSM072, SSM022, SSM099, SSM043, SSM098, SSM012
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)esv2726823
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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