A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716762



Internal ID9951051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119417460..119509671hg38UCSC Ensembl
Outerchr1:119960083..120052294hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3892212
hg1992212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710668, essv6945706, essv6707334, essv6669104, essv6902616, essv6679256, essv6725941, essv6925773, essv6816703, essv6689336, essv6871784, essv6877532, essv6843960, essv6950917, essv6950929, essv6813240, essv6950940, essv6806931, essv6917524, essv6797547, essv6807451, essv6821276, essv6968023, essv6692868, essv6793389, essv6853374
SamplesSSM036, SSM071, SSM075, SSM046, SSM079, SSM087, SSM013, SSM042, SSM002, SSM041, SSM028, SSM017, SSM019, SSM031, SSM001, SSM033, SSM085, SSM072, SSM078, SSM037, SSM077, SSM091, SSM004, SSM012
Known GenesHSD3B1, HSD3B2
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)esv2716762
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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