A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6886528



Internal ID10281535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7896549..7896694hg38UCSC Ensembl
Outerchr4:7898276..7898421hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727087, esv2727088
Supporting Variants
SamplesSSM096
Known GenesAFAP1
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)essv6886528
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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