A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745694



Internal ID9979978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29890793..29891023hg38UCSC Ensembl
Outerchr12:30043726..30043956hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819690, essv6977186, essv6851180, essv6862382
SamplesSSM088, SSM029, SSM086, SSM078
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)esv2745694
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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