A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629498



Internal ID6669638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51040936..51066446hg38UCSC Ensembl
chr12:51434719..51460229hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3825511
hg1925511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14480017
SamplesNA18867
Known GenesCSRNP2, LETMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629498
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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