A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791328



Internal ID19177213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:398706..859422hg38UCSC Ensembl
Innerchr2:398706..855107hg19UCSC Ensembl
Innerchr2:388706..845107hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38460717
hg19456402
hg18456402
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891448
Supporting Variants
Samples
Known GenesLINC01115, TMEM18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=140
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791328
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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