A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4039232



Internal ID11375956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40377402..40377402hg38UCSC Ensembl
chr19:40883309..40883309hg19UCSC Ensembl
chr19:45575149..45575149hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1638921
Supporting Variants
SamplesHuRef
Known GenesPLD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4039232
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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