A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634943



Internal ID6675057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74426684..74537774hg38UCSC Ensembl
chr14:74893387..75004477hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38111091
hg19111091
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15061246
SamplesHG01842
Known GenesISCA2, LTBP2, MIR4709, NPC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634943
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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