A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630570



Internal ID7017387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101447769..101466276hg38UCSC Ensembl
chr12:101841547..101860054hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3818508
hg1918508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv298e214
Supporting Variantsessv14590093
SamplesNA19681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630570
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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