A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1248605



Internal ID12065042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30522261..30522261hg38UCSC Ensembl
chr19:31013168..31013168hg19UCSC Ensembl
chr19:35705008..35705008hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4153918
SamplesHuRef
Known GenesZNF536
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1248605
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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