A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683579



Internal ID9754264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88760331..88760616hg38UCSC Ensembl
Outerchr4:89681482..89681767hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727954
Supporting Variants
SamplesSSM034
Known GenesFAM13A
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)essv6683579
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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