A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892199



Internal ID19183019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48282255..48310691hg38UCSC Ensembl
Outerchr12:48282000..48328049hg38UCSC Ensembl
Innerchr12:48676038..48704474hg19UCSC Ensembl
Outerchr12:48675783..48721832hg19UCSC Ensembl
Innerchr12:46962305..46990741hg18UCSC Ensembl
Outerchr12:46962050..47008099hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3846050
hg1946050
hg1846050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781242, essv25784878, essv25785059, essv25779013, essv25799919, essv25784747, essv25779509, essv25784090, essv25780424, essv25786617, essv25800706, essv25783423, essv25778885, essv25781323
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892199
Frequency
Sample Size3017
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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