A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14571781



Internal ID1191199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93899426..93927347hg38UCSC Ensembl
chr12:94293202..94321123hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3827922
hg1927922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630406
Supporting Variants
SamplesHG01066
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14571781
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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