A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789405



Internal ID18831126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130132813..130331770hg38UCSC Ensembl
Innerchr2:130890386..131089343hg19UCSC Ensembl
Innerchr2:130606856..130805813hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38198958
hg19198958
hg18198958
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893326
Supporting Variants
Samples
Known GenesCCDC74B, MED15P9, MZT2B, SMPD4, TUBA3E
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789405
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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