A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14579284



Internal ID4392945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96629901..96678959hg38UCSC Ensembl
chr12:97023679..97072737hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3849059
hg1949059
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630456
Supporting Variants
SamplesHG03914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14579284
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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