A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743989



Internal ID9806416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1079374..1079633hg38UCSC Ensembl
Outerchr12:1188540..1188799hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745378, esv2745377
Supporting Variants
SamplesSSM053
Known GenesERC1
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)essv6743989
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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