A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748447



Internal ID10158719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:160390839..160391414hg38UCSC Ensembl
Outerchr4:161311991..161312566hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728631
Supporting Variants
SamplesSSM056
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)essv6748447
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer