A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928979



Internal ID9691479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42283867..42284167hg38UCSC Ensembl
Outerchr21:43703977..43704277hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723544
Supporting Variants
SamplesSSM019
Known GenesABCG1
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)essv6928979
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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