A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807600



Internal ID10211913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38180859..38180975hg38UCSC Ensembl
Outerchr2:38408001..38408117hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719944
Supporting Variants
SamplesSSM075
Known GenesCYP1B1-AS1
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)essv6807600
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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