A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14417103



Internal ID4418919
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628929
Supporting Variants
SamplesNA19717
Known GenesSTK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14417103
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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