A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791392



Internal ID19173843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139943603..140141823hg38UCSC Ensembl
Innerchr4:140864757..141062977hg19UCSC Ensembl
Innerchr4:141084207..141282427hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38198221
hg19198221
hg18198221
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894041
Supporting Variants
Samples
Known GenesMAML3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=41
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791392
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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