A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893130



Internal ID19183950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69044336..69100794hg38UCSC Ensembl
Outerchr18:69044336..69100794hg38UCSC Ensembl
Innerchr18:66711573..66768031hg19UCSC Ensembl
Outerchr18:66711573..66768031hg19UCSC Ensembl
Innerchr18:64862553..64919011hg18UCSC Ensembl
Outerchr18:64862553..64919011hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3856459
hg1956459
hg1856459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796331, essv25783214
Samples
Known GenesCCDC102B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893130
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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