A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693669



Internal ID10108781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59518981..59519413hg38UCSC Ensembl
Outerchr4:60384699..60385131hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727670, esv2727666, esv2727667
Supporting Variants
SamplesSSM037
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)essv6693669
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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