A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721103



Internal ID10304739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168538948..168539267hg38UCSC Ensembl
Outerchr2:169395458..169395777hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825434, essv6973123, essv6962222, essv6942274, essv6683182, essv6906537, essv6847684, essv6859683, essv6817075, essv6968402, essv6707634, essv6807703, essv6686502, essv6955463, essv6853870, essv6797901, essv6864470, essv6847621, essv6669650, essv6892693, essv6793731, essv6889369, essv6675606
SamplesSSM071, SSM027, SSM075, SSM011, SSM087, SSM097, SSM088, SSM041, SSM023, SSM028, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM014, SSM086, SSM072, SSM078, SSM080, SSM034, SSM098
Known GenesCERS6
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)esv2721103
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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