A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789075



Internal ID19162968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:118188365..118489227hg38UCSC Ensembl
Innerchr4:119109520..119410382hg19UCSC Ensembl
Innerchr4:119328968..119629830hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38300863
hg19300863
hg18300863
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894015
Supporting Variants
Samples
Known GenesNDST3, PRSS12, SNHG8, SNORA24
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789075
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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