A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797499



Internal ID10005663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22162948..22163517hg38UCSC Ensembl
Outerchr7:22202566..22203135hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734118
Supporting Variants
SamplesSSM009
Known GenesRAPGEF5
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)essv6797499
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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