A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669538



Internal ID9588957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1242081..1244737hg38UCSC Ensembl
Outerchr12:1242044..1244787hg38UCSC Ensembl
Innerchr12:1351247..1353903hg19UCSC Ensembl
Outerchr12:1351210..1353953hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382744
hg192744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5684024
SamplesNA19380
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669538
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