A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890752



Internal ID18838368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150241108..150249081hg38UCSC Ensembl
Outerchr5:150241108..150249081hg38UCSC Ensembl
Innerchr5:149620671..149628644hg19UCSC Ensembl
Outerchr5:149620671..149628644hg19UCSC Ensembl
Innerchr5:149600864..149608837hg18UCSC Ensembl
Outerchr5:149600864..149608837hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg387974
hg197974
hg187974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782389
Samples
Known GenesCAMK2A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890752
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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