A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15077007



Internal ID5078823
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635076
Supporting Variants
SamplesNA06984
Known GenesCEP128, GTF2A1, SEL1L, SNORA79, STON2, TSHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15077007
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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