A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827767



Internal ID9881786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99052443..99052752hg38UCSC Ensembl
Outerchr12:99446221..99446530hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746268
Supporting Variants
SamplesSSM080
Known GenesANKS1B
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)essv6827767
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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