A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629770



Internal ID7016591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64289771..64312410hg38UCSC Ensembl
Innerchr12:64289771..64312410hg38UCSC Ensembl
Outerchr12:64289271..64312910hg38UCSC Ensembl
chr12:64683551..64706190hg19UCSC Ensembl
Innerchr12:64683551..64706190hg19UCSC Ensembl
Outerchr12:64683051..64706690hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3822640
hg1922640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14514575
SamplesNA20339
Known GenesC12orf56
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629770
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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