A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748882



Internal ID9983166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:76311732..76312767hg38UCSC Ensembl
Outerchr14:76778075..76779110hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741338, essv6761174, essv6879687, essv6932170, essv6673652, essv6977773
SamplesSSM093, SSM061, SSM029, SSM031, SSM020, SSM052
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)esv2748882
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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