A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892659



Internal ID19183479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72608757..72678753hg38UCSC Ensembl
Outerchr2:72608757..72678753hg38UCSC Ensembl
Innerchr2:72835886..72905882hg19UCSC Ensembl
Outerchr2:72835886..72905882hg19UCSC Ensembl
Innerchr2:72689394..72759390hg18UCSC Ensembl
Outerchr2:72689394..72759390hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3869997
hg1969997
hg1869997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782941
Samples
Known GenesEXOC6B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892659
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