A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728959



Internal ID10312595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186701832..186702212hg38UCSC Ensembl
Outerchr4:187622986..187623366hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781871, essv6777837, essv6956416, essv6693815, essv6829862, essv6767256, essv6942964
SamplesSSM064, SSM023, SSM026, SSM067, SSM068, SSM081, SSM037
Known GenesFAT1
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)esv2728959
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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