A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876897



Internal ID9926003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77277709..77278608hg38UCSC Ensembl
Outerchr14:77744052..77744951hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748902
Supporting Variants
SamplesSSM092
Known GenesPOMT2
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)essv6876897
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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