A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664620



Internal ID9584039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124529122..124531374hg38UCSC Ensembl
Outerchr12:124529085..124531424hg38UCSC Ensembl
Innerchr12:125013668..125015920hg19UCSC Ensembl
Outerchr12:125013631..125015970hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6538984
SamplesHG01072
Known GenesNCOR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664620
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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