A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15107085



Internal ID5108901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99583331..99589930hg38UCSC Ensembl
chr14:100049668..100056267hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635485
Supporting Variants
SamplesHG02896
Known GenesCCDC85C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15107085
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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