A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892165



Internal ID18839875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:26965680..26971722hg38UCSC Ensembl
Outerchr12:26965680..26971722hg38UCSC Ensembl
Innerchr12:27118613..27124655hg19UCSC Ensembl
Outerchr12:27118613..27124655hg19UCSC Ensembl
Innerchr12:27009880..27015922hg18UCSC Ensembl
Outerchr12:27009880..27015922hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386043
hg196043
hg186043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25798369
Samples
Known GenesFGFR1OP2, TM7SF3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892165
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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