A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15098924



Internal ID4722922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93186575..93243081hg38UCSC Ensembl
chr14:93652920..93709427hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3856507
hg1956508
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635357
Supporting Variants
SamplesNA06984
Known GenesBTBD7, C14orf142, TMEM251, UBR7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15098924
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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