A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748873



Internal ID10329843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75407794..75408774hg38UCSC Ensembl
Outerchr14:75874497..75875477hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792157, essv6738103, essv6836832, essv6761172, essv6857674, essv6668360, essv6765944, essv6876894, essv6763559, essv6959781, essv6916386, essv6971152, essv6758432
SamplesSSM059, SSM087, SSM050, SSM028, SSM092, SSM061, SSM062, SSM026, SSM016, SSM010, SSM070, SSM030, SSM063
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)esv2748873
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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