A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953973



Internal ID9645178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233634714..233636278hg38UCSC Ensembl
Outerchr2:234543360..234544924hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721665, esv2721663, esv2721664
Supporting Variants
SamplesSSM004
Known GenesUGT1A8
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)essv6953973
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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