A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934934



Internal ID10043772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1081500..1082185hg38UCSC Ensembl
Outerchr7:1121136..1121821hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733711
Supporting Variants
SamplesSSM021
Known GenesC7orf50
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)essv6934934
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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