A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721984



Internal ID9956282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206781628..206782265hg38UCSC Ensembl
Outerchr1:206954973..206955610hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853472, essv6750730, essv6769680, essv6816778, essv6714400, essv6933464, essv6699770, essv6722147
SamplesSSM045, SSM065, SSM087, SSM039, SSM057, SSM021, SSM078, 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)esv2721984
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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