A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788688



Internal ID18836125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130128318..130380339hg38UCSC Ensembl
Innerchr2:130885891..131137912hg19UCSC Ensembl
Innerchr2:130602361..130854382hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38252022
hg19252022
hg18252022
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893326
Supporting Variants
Samples
Known GenesCCDC115, CCDC74B, IMP4, MED15P9, MZT2B, POTEF, PTPN18, SMPD4, TUBA3E
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=39
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788688
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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