A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1779341



Internal ID12595773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1278198..1278198hg38UCSC Ensembl
chr19:1278197..1278197hg19UCSC Ensembl
chr19:1229197..1229197hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3981566
SamplesHuRef
Known GenesC19orf24
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1779341
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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