A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721392



Internal ID10305028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205988718..205988971hg38UCSC Ensembl
Outerchr2:206853442..206853695hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847735, essv6955518, essv6859730, essv6962279, essv6683213, essv6785477, essv6886305
SamplesSSM027, SSM088, SSM069, SSM096, SSM026, SSM086, SSM034
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)esv2721392
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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