A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630935



Internal ID6671068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121063111..121157572hg38UCSC Ensembl
chr12:121500914..121595375hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3894462
hg1994462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv307e214
Supporting Variantsessv14618982
SamplesNA18625
Known GenesP2RX7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630935
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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