A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579147



Internal ID7050529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1959618..1959731hg38UCSC Ensembl
chr19:1959617..1959730hg19UCSC Ensembl
chr19:1910617..1910730hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38114
hg19114
hg18114
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989730
Supporting Variants
SamplesHuRef
Known GenesCSNK1G2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579147
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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