A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748781



Internal ID9983065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63752294..63752441hg38UCSC Ensembl
Outerchr14:64219012..64219159hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977754, essv6868287, essv6835141
SamplesSSM011, SSM029, SSM082
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)esv2748781
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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