A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675914



Internal ID9746401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1641169..1641357hg38UCSC Ensembl
Outerchr4:1642896..1643084hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726826
Supporting Variants
SamplesSSM032
Known GenesFAM53A
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)essv6675914
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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