A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6726283



Internal ID10137137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281981..201284689hg38UCSC Ensembl
Outerchr2:202146704..202149412hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382709
hg192709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721364
Supporting Variants
SamplesSSM046
Known GenesCASP8
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)essv6726283
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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