A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734902



Internal ID9969232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100609347..100609453hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849647, essv6855708, essv6701433, essv6931440, essv6799205, essv6865979, essv6919186
SamplesSSM087, SSM039, SSM089, SSM017, SSM003, SSM086, SSM072
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)esv2734902
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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