A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1173984



Internal ID12337107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19326718..19326718hg38UCSC Ensembl
chr19:19437527..19437527hg19UCSC Ensembl
chr19:19298527..19298527hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3762663
SamplesHuRef
Known GenesMAU2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1173984
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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