A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15061246



Internal ID5063062
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634943
Supporting Variants
SamplesHG01842
Known GenesISCA2, LTBP2, MIR4709, NPC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15061246
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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