A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804783



Internal ID9860741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233722844..233725341hg38UCSC Ensembl
Outerchr2:234631490..234633987hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721667, esv2721668
Supporting Variants
SamplesSSM074
Known GenesUGT1A10, UGT1A4, UGT1A5, UGT1A6, 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)essv6804783
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer