A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1297424



Internal ID12113860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43517391..43517391hg38UCSC Ensembl
chr19:44021543..44021543hg19UCSC Ensembl
chr19:48713383..48713383hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4288990
SamplesHuRef
Known GenesETHE1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1297424
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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