A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907903



Internal ID10019424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93912516..93913206hg38UCSC Ensembl
Outerchr7:93541828..93542518hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734826, esv2734827
Supporting Variants
SamplesSSM014
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)essv6907903
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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