A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628371



Internal ID7015195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4759845..4765108hg38UCSC Ensembl
chr12:4869011..4874274hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385264
hg195264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14343689, essv14343690
SamplesNA18642, HG00107
Known GenesGALNT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628371
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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