A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893324



Internal ID18837458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25437720..25633741hg38UCSC Ensembl
Outerchr20:25437720..25633741hg38UCSC Ensembl
Innerchr20:25418356..25614377hg19UCSC Ensembl
Outerchr20:25418356..25614377hg19UCSC Ensembl
Innerchr20:25366356..25562377hg18UCSC Ensembl
Outerchr20:25366356..25562377hg18UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38196022
hg19196022
hg18196022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789475
Samples
Known GenesGINS1, NANP, NINL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893324
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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