A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1435034



Internal ID12251470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1049473..1049522hg38UCSC Ensembl
chr19:1049472..1049521hg19UCSC Ensembl
chr19:1000472..1000521hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4352416
SamplesHuRef
Known GenesABCA7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1435034
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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