A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6789919



Internal ID9847577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7756339..7756748hg38UCSC Ensembl
Outerchr4:7758066..7758475hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727075, esv2727074
Supporting Variants
SamplesSSM070
Known GenesAFAP1-AS1
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)essv6789919
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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