A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4213146



Internal ID11148998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2128511..2128589hg38UCSC Ensembl
chr19:2128510..2128588hg19UCSC Ensembl
chr19:2079510..2079588hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1666079
Supporting Variants
SamplesHuRef
Known GenesAP3D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4213146
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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