A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6770590



Internal ID10177014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82908674..82908869hg38UCSC Ensembl
Outerchr5:82204493..82204688hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730393
Supporting Variants
SamplesSSM065
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)essv6770590
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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