A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735184



Internal ID9798637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21894171..21894838hg38UCSC Ensembl
Outerchr12:22047105..22047772hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745627
Supporting Variants
SamplesSSM049
Known GenesABCC9
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)essv6735184
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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