A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892180



Internal ID19183000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33947453..34666991hg38UCSC Ensembl
Outerchr12:33947453..34666991hg38UCSC Ensembl
Innerchr12:34100388..34819926hg19UCSC Ensembl
Outerchr12:34100388..34819926hg19UCSC Ensembl
Innerchr12:33991655..34711193hg18UCSC Ensembl
Outerchr12:33991655..34711193hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38719539
hg19719539
hg18719539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792541
Samples
Known GenesALG10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892180
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer