A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892224



Internal ID19183044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74033831..74222989hg38UCSC Ensembl
Outerchr12:74033831..74222989hg38UCSC Ensembl
Innerchr12:74427611..74616769hg19UCSC Ensembl
Outerchr12:74427611..74616769hg19UCSC Ensembl
Innerchr12:72713878..72903036hg18UCSC Ensembl
Outerchr12:72713878..72903036hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38189159
hg19189159
hg18189159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787752, essv25787645, essv25783022, essv25782698
Samples
Known GenesLOC100507377
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892224
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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