A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16066545



Internal ID6068361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45677013..45696301hg38UCSC Ensembl
chr19:46180271..46199559hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3819289
hg1919289
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644509
Supporting Variants
SamplesNA20521
Known GenesGIPR, QPCTL, SNRPD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16066545
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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