A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107071



Internal ID5108887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99277609..99600560hg38UCSC Ensembl
chr14:99743946..100066897hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38322952
hg19322952
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635481
Supporting Variants
SamplesNA06984
Known GenesCCDC85C, CCNK, SETD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107071
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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