A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891192



Internal ID18838902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12820292..12854043hg38UCSC Ensembl
Outerchr1:12790393..12862756hg38UCSC Ensembl
Innerchr1:12880153..12913896hg19UCSC Ensembl
Outerchr1:12850542..12922611hg19UCSC Ensembl
Innerchr1:12802740..12836483hg18UCSC Ensembl
Outerchr1:12773129..12845198hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3872364
hg1972070
hg1872070
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791057, essv25790602, essv25796240, essv25789100, essv25787908, essv25787494, essv25792802, essv25791041, essv25796353, essv25789138, essv25791015, essv25780439, essv25786482, essv25787995, essv25799286, essv25781694, essv25797430, essv25781141, essv25797277, essv25779746, essv25789560, essv25790643, essv25787832, essv25787366, essv25800334, essv25798459, essv25790776, essv25786662, essv25801663, essv25790751, essv25800091, essv25798427
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891192
Frequency
Sample Size3017
Observed Gain14
Observed Loss18
Observed Complex0
Frequencyn/a


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