A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5777442



Internal ID8754845
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 Flag1
Merged StatusS
Merged Variantsesv2665044
Supporting Variants
SamplesNA12763
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5777442
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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