A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075213



Internal ID6077096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49417657..49422388hg38UCSC Ensembl
Innerchr19:49417672..49422374hg38UCSC Ensembl
Outerchr19:49417643..49422403hg38UCSC Ensembl
chr19:49920914..49925645hg19UCSC Ensembl
Innerchr19:49920929..49925631hg19UCSC Ensembl
Outerchr19:49920900..49925660hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384732
hg194732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644623
Supporting Variants
SamplesNA12815
Known GenesCCDC155
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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