A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675202



Internal ID9941307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:38703985..38709071hg38UCSC Ensembl
Outerchr12:38703948..38709121hg38UCSC Ensembl
Innerchr12:39097787..39102873hg19UCSC Ensembl
Outerchr12:39097750..39102923hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385174
hg195174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6392700
SamplesHG01378
Known GenesCPNE8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675202
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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