A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16072842



Internal ID6074658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48565592..48572246hg38UCSC Ensembl
chr19:49068849..49075503hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386655
hg196655
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644591
Supporting Variants
SamplesHG03449
Known GenesSULT2B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16072842
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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