A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6878003



Internal ID9926999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233672416..233682463hg38UCSC Ensembl
Outerchr2:234581062..234591109hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3810048
hg1910048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721666
Supporting Variants
SamplesSSM093
Known GenesUGT1A10, UGT1A7, UGT1A8, UGT1A9
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)essv6878003
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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