A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892426



Internal ID19183246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54757287..54796463hg38UCSC Ensembl
Outerchr2:54757287..54796463hg38UCSC Ensembl
Innerchr2:54984424..55023600hg19UCSC Ensembl
Outerchr2:54984424..55023600hg19UCSC Ensembl
Innerchr2:54837928..54877104hg18UCSC Ensembl
Outerchr2:54837928..54877104hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3839177
hg1939177
hg1839177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787419
Samples
Known GenesEML6
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892426
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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