A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788175



Internal ID18829000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1005374..1856757hg38UCSC Ensembl
Innerchr2:1001060..1860529hg19UCSC Ensembl
Innerchr2:991060..1839536hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38851384
hg19859470
hg18848477
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891470
Supporting Variants
Samples
Known GenesMYT1L, PXDN, SNTG2, TPO
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=203
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788175
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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