A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906878



Internal ID10020348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16942687..16949121hg38UCSC Ensembl
Outerchr4:16944310..16950744hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg386435
hg196435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727234
Supporting Variants
SamplesSSM014
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)essv6906878
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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