A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16059004



Internal ID2581007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43064239..43279474hg38UCSC Ensembl
Innerchr19:43064739..43278974hg38UCSC Ensembl
Outerchr19:43063239..43280474hg38UCSC Ensembl
chr19:43568391..43783626hg19UCSC Ensembl
Innerchr19:43568891..43783126hg19UCSC Ensembl
Outerchr19:43567391..43784626hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38215236
hg19215236
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644442
Supporting Variants
SamplesHG02284
Known GenesLOC284344, PSG2, PSG4, PSG5, PSG9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16059004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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