A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748902



Internal ID3296854
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 StatusM
Merged Variants
Supporting Variantsessv6876897
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)esv2748902
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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