A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892268



Internal ID18836402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121747658..121845875hg38UCSC Ensembl
Outerchr12:121747658..121845875hg38UCSC Ensembl
Innerchr12:122185564..122283781hg19UCSC Ensembl
Outerchr12:122185564..122283781hg19UCSC Ensembl
Innerchr12:120669947..120768164hg18UCSC Ensembl
Outerchr12:120669947..120768164hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3898218
hg1998218
hg1898218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787345
Samples
Known GenesHPD, LOC338799, RHOF, SETD1B, TMEM120B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892268
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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