A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629347



Internal ID7016169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43582308..43601606hg38UCSC Ensembl
chr12:43976111..43995409hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3819299
hg1919299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14464580
SamplesHG03202
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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