A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721783



Internal ID10305419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238776305..238777113hg38UCSC Ensembl
Outerchr2:239684946..239685754hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38809
hg19809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840447, essv6968472, essv6781392, essv6973266, essv6946989, essv6752919, essv6730069, essv6793795, essv6777409, essv6955588, essv6951052, essv6693313, essv6920973, essv6910543, essv6847794, essv6914384, essv6773891, essv6962344
SamplesSSM008, SSM071, SSM027, SSM024, SSM028, SSM084, SSM047, SSM029, SSM026, SSM003, SSM067, SSM086, SSM066, SSM068, SSM015, SSM016, SSM037, SSM025
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)esv2721783
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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