A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814179



Internal ID10216242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131468433..131468743hg38UCSC Ensembl
Outerchr5:130804126..130804436hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730775, esv2730774
Supporting Variants
SamplesSSM077
Known GenesRAPGEF6
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)essv6814179
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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