A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670860



Internal ID9936965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:88234089..88234799hg38UCSC Ensembl
Outerchr12:88233932..88234952hg38UCSC Ensembl
Innerchr12:88627866..88628576hg19UCSC Ensembl
Outerchr12:88627709..88628729hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6519543
SamplesHG00512
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670860
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