A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056646



Internal ID5416999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42788425..43286626hg38UCSC Ensembl
Innerchr19:42788925..43286126hg38UCSC Ensembl
Outerchr19:42787425..43287626hg38UCSC Ensembl
chr19:43292577..43790778hg19UCSC Ensembl
Innerchr19:43293077..43790278hg19UCSC Ensembl
Outerchr19:43291577..43791778hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38498202
hg19498202
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644411
Supporting Variants
SamplesNA18950
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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