A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722395



Internal ID10306031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:211724712..211725354hg38UCSC Ensembl
Outerchr1:211898054..211898696hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804544, essv6789320, essv6714405, essv6720098, essv6670488, essv6797620, essv6859381, essv6679336, essv6710739, essv6786065, essv6840119, essv6845299, essv6874838
SamplesSSM011, SSM009, SSM074, SSM042, SSM088, SSM092, SSM084, SSM033, SSM072, SSM007, SSM005, SSM070, SSM043
Known Genes
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)esv2722395
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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