A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628929



Internal ID6669069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27167609..27304231hg38UCSC Ensembl
chr12:27320542..27457164hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38136623
hg19136623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263e214
Supporting Variantsessv14417103
SamplesNA19717
Known GenesSTK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628929
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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