A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892587



Internal ID19183407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105601281..105680045hg38UCSC Ensembl
Outerchr14:105532207..105721708hg38UCSC Ensembl
Innerchr14:106067618..106146382hg19UCSC Ensembl
Outerchr14:105998544..106188045hg19UCSC Ensembl
Innerchr14:105138663..105217427hg18UCSC Ensembl
Outerchr14:105069589..105259090hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38189502
hg19189502
hg18189502
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792724, essv25778909, essv25789018, essv25799049, essv25797941, essv25792886, essv25786595, essv25786297, essv25797955, essv25792820, essv25799073, essv25788998, essv25789211, essv25789577, essv25792818, essv25792683, essv25789543, essv25788516, essv25789073, essv25788638, essv25797779, essv25789545, essv25792811, essv25796191, essv25797288, essv25789007, essv25787389, essv25792488, essv25796233
Samples
Known GenesELK2AP, MIR8071-1, MIR8071-2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892587
Frequency
Sample Size3017
Observed Gain17
Observed Loss12
Observed Complex0
Frequencyn/a


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