A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv263e214



Internal ID20121686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27152627..27304231hg38UCSC Ensembl
chr12:27305560..27457164hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38151605
hg19151605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628928, esv3628929
SamplesNA19717
Known GenesSTK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv263e214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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