A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721665



Internal ID9955962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233634714..233636342hg38UCSC Ensembl
Outerchr2:234543360..234544988hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381629
hg191629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872082, essv6953973
SamplesSSM091, SSM004
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)esv2721665
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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