A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3990069



Internal ID11425118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1165978..1165978hg38UCSC Ensembl
chr19:1165977..1165977hg19UCSC Ensembl
chr19:1116977..1116977hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1428489
Supporting Variants
SamplesHuRef
Known GenesSBNO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3990069
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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