A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14475492



Internal ID974250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48266859..48326562hg38UCSC Ensembl
chr12:48660642..48720345hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3859704
hg1959704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629431
Supporting Variants
SamplesHG00599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14475492
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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