A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721717



Internal ID10305353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237211567..237212115hg38UCSC Ensembl
Outerchr2:238120210..238120758hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv635e201
Supporting Variantsessv6853970, essv6898997, essv6840441, essv6700142, essv6859774, essv6955575, essv6938155, essv6844273, essv6697335, essv6951044, essv6910537, essv6946982, essv6902977, essv6693309, essv6962335, essv6813570, essv6773885, essv6793789, essv6906617, essv6730064, essv6766880, essv6785518, essv6689697, essv6821645, essv6914380, essv6711048, essv6869084, essv6739247
SamplesSSM100, SSM036, SSM071, SSM027, SSM024, SSM064, SSM079, SSM087, SSM038, SSM039, SSM013, SSM042, SSM088, SSM084, SSM090, SSM047, SSM069, SSM026, SSM014, SSM066, SSM085, SSM015, SSM016, SSM037, SSM077, SSM022, SSM025, SSM052
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)esv2721717
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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