A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947650



Internal ID10056421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128688606..128688732hg38UCSC Ensembl
Outerchr5:128024299..128024425hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730757, esv2730756
Supporting Variants
SamplesSSM024
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)essv6947650
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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