A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991958



Internal ID2584754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12389549..12433614hg38UCSC Ensembl
chr19:12500363..12544428hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3844066
hg1944066
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643700
Supporting Variants
SamplesHG02286
Known GenesZNF443, ZNF799
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991958
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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