A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748792



Internal ID9983076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65368122..65368686hg38UCSC Ensembl
Outerchr14:65834840..65835404hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38565
hg19565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752771, essv6747063, essv6873889, essv6763557, essv6928165
SamplesSSM057, SSM062, SSM019, SSM091, SSM055
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)esv2748792
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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