A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893019



Internal ID18837153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46589788..46704811hg38UCSC Ensembl
Outerchr17:46562983..46704811hg38UCSC Ensembl
Innerchr17:44667154..44782177hg19UCSC Ensembl
Outerchr17:44640349..44782177hg19UCSC Ensembl
Innerchr17:42022470..42137359hg18UCSC Ensembl
Outerchr17:41995665..42137359hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38141829
hg19141829
hg18141695
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792490, essv25780323, essv25789119, essv25792759, essv25789056, essv25800914, essv25792544, essv25788964, essv25788696, essv25785071, essv25792585, essv25789261, essv25789237, essv25787268, essv25792704, essv25788382, essv25799787, essv25779338, essv25785063, essv25799607, essv25792861, essv25789471, essv25793013, essv25786338, essv25789569, essv25788647, essv25789322, essv25792279, essv25792872, essv25788725, essv25798533, essv25799879, essv25792583, essv25789164, essv25788509, essv25791112, essv25789031, essv25785828, essv25792579, essv25788525
Samples
Known GenesARL17A, ARL17B, NSF, NSFP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893019
Frequency
Sample Size3017
Observed Gain28
Observed Loss12
Observed Complex0
Frequencyn/a


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