A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16049589



Internal ID2943168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36439570..36491722hg38UCSC Ensembl
chr19:36930472..36982624hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3852153
hg1952153
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644257
Supporting Variants
SamplesHG02600
Known GenesLOC728752, ZNF566
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16049589
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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