A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991870



Internal ID5993686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11938008..11949938hg38UCSC Ensembl
chr19:12048823..12060753hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3811931
hg1911931
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643687
Supporting Variants
SamplesHG00109
Known GenesZNF700
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991870
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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