A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3978538



Internal ID11436649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116831..35116831hg38UCSC Ensembl
chr19:35607735..35607735hg19UCSC Ensembl
chr19:40299575..40299575hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1471418
Supporting Variants
SamplesHuRef
Known GenesFXYD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3978538
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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