A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1171542



Internal ID11987979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9970460..9970460hg38UCSC Ensembl
chr19:10081136..10081136hg19UCSC Ensembl
chr19:9942136..9942136hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38245
hg19245
hg18245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4037975
SamplesHuRef
Known GenesCOL5A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1171542
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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