A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6951355



Internal ID10059748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14389454..14389692hg38UCSC Ensembl
Outerchr4:14391078..14391316hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727204
Supporting Variants
SamplesSSM025
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)essv6951355
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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