A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748995



Internal ID9983279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88607825..88608520hg38UCSC Ensembl
Outerchr14:89074169..89074864hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6774942, essv6977801, essv6894928
SamplesSSM029, SSM008, SSM098
Known GenesZC3H14
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)esv2748995
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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