A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1514310



Internal ID12330746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2131616..2131673hg38UCSC Ensembl
chr19:2131615..2131672hg19UCSC Ensembl
chr19:2082615..2082672hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4217593
SamplesHuRef
Known GenesAP3D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1514310
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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