A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6676278



Internal ID10093571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:9989983..9990191hg38UCSC Ensembl
Outerchr5:9990095..9990303hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729733, esv2729734
Supporting Variants
SamplesSSM032
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)essv6676278
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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