A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635076



Internal ID6675190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80715257..81672373hg38UCSC Ensembl
Innerchr14:80715407..81672223hg38UCSC Ensembl
Outerchr14:80715107..81672523hg38UCSC Ensembl
chr14:81181601..82138717hg19UCSC Ensembl
Innerchr14:81181751..82138567hg19UCSC Ensembl
Outerchr14:81181451..82138867hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38957117
hg19957117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15077007
SamplesNA06984
Known GenesCEP128, GTF2A1, SEL1L, SNORA79, STON2, TSHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635076
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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