A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790756



Internal ID18818800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30985830..31116083hg38UCSC Ensembl
Innerchr14:31455036..31585289hg19UCSC Ensembl
Innerchr14:30524787..30655040hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38130254
hg19130254
hg18130254
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892495
Supporting Variants
Samples
Known GenesAP4S1, HECTD1, MIR624, STRN3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790756
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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