A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749182



Internal ID10330152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104097938..104098194hg38UCSC Ensembl
Outerchr14:104564275..104564531hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv276e201
Supporting Variantsessv6920534, essv6842763, essv6867558, essv6966327, essv6828036, essv6857726, essv6851727, essv6862779
SamplesSSM027, SSM087, SSM088, SSM084, SSM089, SSM017, SSM086, SSM080
Known GenesASPG
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)esv2749182
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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