A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665044



Internal ID9584463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27113717..27631416hg38UCSC Ensembl
Outerchr12:27113683..27631451hg38UCSC Ensembl
Innerchr12:27266650..27784349hg19UCSC Ensembl
Outerchr12:27266616..27784384hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38517769
hg19517769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv271e199
Supporting Variantsessv5853595, essv5777442
SamplesNA12249, NA12763
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665044
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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