A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6910758



Internal ID9676971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2396144..2396721hg38UCSC Ensembl
Outerchr4:2397871..2398448hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726841, esv2726835, esv2726843
Supporting Variants
SamplesSSM015
Known GenesZFYVE28
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)essv6910758
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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