A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629504



Internal ID7016325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51524989..51552440hg38UCSC Ensembl
chr12:51918773..51946224hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3827452
hg1927452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14481077
SamplesNA19719
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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