A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782389



Internal ID18814160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150241108..150249081hg38UCSC Ensembl
Innerchr5:149620671..149628644hg19UCSC Ensembl
Innerchr5:149600864..149608837hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg387974
hg197974
hg187974
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890752
Supporting Variants
Samples
Known GenesCAMK2A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782389
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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