A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628255



Internal ID7015079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:759212..765324hg38UCSC Ensembl
chr12:868378..874490hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386113
hg196113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14330193, essv14330192, essv14330194
SamplesNA18917, HG02140, NA18522
Known GenesWNK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628255
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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