A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628481



Internal ID7015305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8787570..8795078hg38UCSC Ensembl
chr12:8940166..8947674hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387509
hg197509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249e214
Supporting Variantsessv14359304, essv14359305, essv14359303, essv14359302
SamplesHG02722, HG02391, NA18873, NA19129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628481
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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