A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996177



Internal ID6732121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2131659..2131715hg38UCSC Ensembl
chr19:2131658..2131714hg19UCSC Ensembl
chr19:2082658..2082714hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567599
SamplesHuRef
Known GenesAP3D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996177
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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