A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1431206



Internal ID12247642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48824237..48824237hg38UCSC Ensembl
chr19:49327494..49327494hg19UCSC Ensembl
chr19:54019306..54019306hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38203
hg19203
hg18203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3698598
SamplesHuRef
Known GenesHSD17B14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1431206
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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