A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822312



Internal ID10223562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149327065..149327296hg38UCSC Ensembl
Outerchr5:148706628..148706859hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730905, esv2730907
Supporting Variants
SamplesSSM079
Known GenesAFAP1L1
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)essv6822312
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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