A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753878



Internal ID9815861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233626929..233679344hg38UCSC Ensembl
Outerchr2:234535575..234587990hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3852416
hg1952416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721664
Supporting Variants
SamplesSSM058
Known GenesUGT1A10, 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)essv6753878
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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