A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746272



Internal ID9980556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99762072..99762730hg38UCSC Ensembl
Outerchr12:100155850..100156508hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867241, essv6857289, essv6673239, essv6772653, essv6894701
SamplesSSM089, SSM031, SSM087, SSM008, SSM098
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)esv2746272
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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