A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893020



Internal ID18837154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46381584..46704811hg38UCSC Ensembl
Outerchr17:46206205..46704811hg38UCSC Ensembl
Innerchr17:44458950..44782177hg19UCSC Ensembl
Outerchr17:44283571..44782177hg19UCSC Ensembl
Innerchr17:41814370..42137359hg18UCSC Ensembl
Outerchr17:41639348..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38498607
hg19498607
hg18498012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789474, essv25791044, essv25791933, essv25791638, essv25791018, essv25791161, essv25790984, essv25792426, essv25791051, essv25791534, essv25790270, essv25792119, essv25790973, essv25791737, essv25791134, essv25791503, essv25791612, essv25791370, essv25790998, essv25791068, essv25788840, essv25791793, essv25791403, essv25792475, essv25791033, essv25790616, essv25790117, essv25792715, essv25791907, essv25791195, essv25792726, essv25791038, essv25791950, essv25791332, essv25791277, essv25790986, essv25791085, essv25792208, essv25791768, essv25792511, essv25790116, essv25791254, essv25790944, essv25791164, essv25791286, essv25790221, essv25790968, essv25792466, essv25791511, essv25791288, essv25791430, essv25791782, essv25790170, essv25791207, essv25788958, essv25791436, essv25790396, essv25791785, essv25790381, essv25792221, essv25790856, essv25791126, essv25791759, essv25792153, essv25790485, essv25792175, essv25791472, essv25791582, essv25789850, essv25789663, essv25790238
Samples
Known GenesARL17A, ARL17B, KANSL1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893020
Frequency
Sample Size3017
Observed Gain71
Observed Loss0
Observed Complex0
Frequencyn/a


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