A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735215



Internal ID9969545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138354839..138355659hg38UCSC Ensembl
Outerchr7:138039584..138040404hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828475, essv6701475, essv6743412, essv6911670, essv6964305, essv6805737, essv6708735, essv6754826, essv6927126, essv6975427, essv6731218, essv6907953, essv6687562, essv6811597, essv6904051, essv6837782
SamplesSSM083, SSM027, SSM039, SSM013, SSM074, SSM041, SSM058, SSM047, SSM029, SSM019, SSM035, SSM014, SSM015, SSM053, SSM076, SSM010
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)esv2735215
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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