A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922738



Internal ID10031933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184624411..184624860hg38UCSC Ensembl
Outerchr4:185545565..185546014hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728893
Supporting Variants
SamplesSSM018
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)essv6922738
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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