A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004962



Internal ID7070058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50938468..50941398hg38UCSC Ensembl
Outerchr19:51441724..51444654hg19UCSC Ensembl
Outerchr19:56133536..56136466hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382931
hg192931
hg182931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564008
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004962
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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