A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728631



Internal ID10312267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:160390839..160391518hg38UCSC Ensembl
Outerchr4:161311991..161312670hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865131, essv6934282, essv6968947, essv6875405, essv6745638, essv6756965, essv6963055, essv6748447, essv6918361
SamplesSSM008, SSM027, SSM028, SSM092, SSM021, SSM089, SSM017, SSM055, SSM056
Known Genes
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)esv2728631
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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