A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938592



Internal ID10046161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144314009..144314436hg38UCSC Ensembl
Outerchr4:145235161..145235588hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728484, esv2728483
Supporting Variants
SamplesSSM022
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)essv6938592
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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