A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726789



Internal ID10310425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1372491..1373400hg38UCSC Ensembl
Outerchr4:1366279..1367188hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38910
hg19910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882875, essv6770245, essv6724155, essv6704466, essv6733953, essv6934059, essv6689898, essv6869250
SamplesSSM036, SSM065, SSM090, SSM021, SSM040, SSM007, SSM049, SSM012
Known GenesUVSSA
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)esv2726789
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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