A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14568568



Internal ID5598702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:91512452..91561292hg38UCSC Ensembl
chr12:91906229..91955069hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3848841
hg1948841
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630361
Supporting Variants
SamplesNA19031
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14568568
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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