A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721663



Internal ID9955960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233617724..233636648hg38UCSC Ensembl
Outerchr2:234526370..234545294hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3818925
hg1918925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872082, essv6953973, essv6752808
SamplesSSM008, SSM091, SSM004
Known GenesUGT1A10, UGT1A8
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)esv2721663
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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