A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16086593



Internal ID2060838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52820494..52849196hg38UCSC Ensembl
chr19:53323747..53352449hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3828703
hg1928703
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644725
Supporting Variants
SamplesHG01879
Known GenesZNF28, ZNF468
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16086593
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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