A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893923



Internal ID19184777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105509389..105701204hg38UCSC Ensembl
Outerchr1:105487723..105720918hg38UCSC Ensembl
Innerchr1:106052011..106243826hg19UCSC Ensembl
Outerchr1:106030345..106263540hg19UCSC Ensembl
Innerchr1:105853534..106045349hg18UCSC Ensembl
Outerchr1:105831868..106065063hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38233196
hg19233196
hg18233196
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779859, essv25799881, essv25795976, essv25780215, essv25797897, essv25796254, essv25796099, essv25784382, essv25787099, essv25797624, essv25786040, essv25796068, essv25787483, essv25781352, essv25780031, essv25787307, essv25789103, essv25787639, essv25785983, essv25785034, essv25782403, essv25782488, essv25797206, essv25785403, essv25781262, essv25784419, essv25798665, essv25783823, essv25784621, essv25799654, essv25797216, essv25798732, essv25799329, essv25782838, essv25778451, essv25796899, essv25796365, essv25779085, essv25785821, essv25796841, essv25778364, essv25797822, essv25781540, essv25797858, essv25780416, essv25787399, essv25778944, essv25798500, essv25798252, essv25796623, essv25799424, essv25779848
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893923
Frequency
Sample Size3017
Observed Gain1
Observed Loss51
Observed Complex0
Frequencyn/a


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