A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794883



Internal ID10201068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24774118..24774444hg38UCSC Ensembl
Outerchr7:24813737..24814063hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734137
Supporting Variants
SamplesSSM071
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)essv6794883
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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