A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14464580



Internal ID3613382
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629347
Supporting Variants
SamplesHG03202
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14464580
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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