A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891383



Internal ID19185779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39393511..39465868hg38UCSC Ensembl
Outerchr8:39380149..39483411hg38UCSC Ensembl
Innerchr8:39251030..39323387hg19UCSC Ensembl
Outerchr8:39237668..39340930hg19UCSC Ensembl
Innerchr8:39370187..39442544hg18UCSC Ensembl
Outerchr8:39356825..39460087hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38103263
hg19103263
hg18103263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781610, essv25782954, essv25798585, essv25781481, essv25798330, essv25785081, essv25798651, essv25781299, essv25781960, essv25780219, essv25781697, essv25798982, essv25779500, essv25782252, essv25785468, essv25780332, essv25785486, essv25781818, essv25780427, essv25782233, essv25781463, essv25783990, essv25798877, essv25780303, essv25783905, essv25781687, essv25781076, essv25785385, essv25785689, essv25781389, essv25780185, essv25784800, essv25798155, essv25785437
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891383
Frequency
Sample Size3017
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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