A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854980



Internal ID10252965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131468506..131468577hg38UCSC Ensembl
Outerchr5:130804199..130804270hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730776, esv2730775, esv2730774
Supporting Variants
SamplesSSM087
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)essv6854980
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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