A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893113



Internal ID18837247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:63812857..63849506hg38UCSC Ensembl
Outerchr18:63799698..63849506hg38UCSC Ensembl
Innerchr18:61480091..61516740hg19UCSC Ensembl
Outerchr18:61466932..61516740hg19UCSC Ensembl
Innerchr18:59631071..59667720hg18UCSC Ensembl
Outerchr18:59617912..59667720hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3849809
hg1949809
hg1849809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789089, essv25791159
Samples
Known GenesSERPINB7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893113
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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