A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745368



Internal ID9979652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:757613..765631hg38UCSC Ensembl
Outerchr12:866779..874797hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388019
hg198019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686943, essv6681527, essv6908274, essv6763354, essv6827657, essv6787712, essv6691553, essv6668183, essv6944884, essv6873632, essv6953178, essv6805187, essv6965708, essv6970752, essv6897614, essv6695501, essv6927886, essv6712947, essv6732079, essv6758195, essv6812186, essv6768459, essv6741029
SamplesSSM059, SSM036, SSM027, SSM064, SSM009, SSM042, SSM002, SSM023, SSM028, SSM047, SSM069, SSM062, SSM019, SSM033, SSM005, SSM080, SSM037, SSM076, SSM091, SSM025, SSM099, SSM052, SSM030
Known GenesWNK1
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)esv2745368
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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