A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788443



Internal ID18813900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32684857..32760599hg38UCSC Ensembl
Innerchr2:32909924..32985666hg19UCSC Ensembl
Innerchr2:32763428..32839170hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3875743
hg1975743
hg1875743
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891714
Supporting Variants
Samples
Known GenesTTC27
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788443
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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