A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765159



Internal ID10172126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:25601452..25602569hg38UCSC Ensembl
Outerchr7:25641072..25642189hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734145, esv2734146
Supporting Variants
SamplesSSM063
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)essv6765159
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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