A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6883642



Internal ID10013780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54107688..54108241hg38UCSC Ensembl
Outerchr4:54973855..54974408hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727609
Supporting Variants
SamplesSSM012
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)essv6883642
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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