A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892862



Internal ID19183682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55809340..55827882hg38UCSC Ensembl
Outerchr16:55798655..55830540hg38UCSC Ensembl
Innerchr16:55843252..55861794hg19UCSC Ensembl
Outerchr16:55832567..55864452hg19UCSC Ensembl
Innerchr16:54400753..54419295hg18UCSC Ensembl
Outerchr16:54390068..54421953hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3831886
hg1931886
hg1831886
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789049, essv25789319, essv25792246, essv25792152, essv25791700, essv25791906, essv25791829, essv25791631, essv25788823, essv25792921, essv25790441, essv25790563, essv25779056, essv25787895, essv25790923, essv25788992, essv25792075, essv25791281, essv25788671, essv25790195, essv25790237, essv25788634, essv25792134, essv25789498
Samples
Known GenesCES1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892862
Frequency
Sample Size3017
Observed Gain23
Observed Loss1
Observed Complex0
Frequencyn/a


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