A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628933



Internal ID6669073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27275994..27403117hg38UCSC Ensembl
chr12:27428927..27556050hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38127124
hg19127124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14417232
SamplesNA19717
Known GenesARNTL2, STK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628933
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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