A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4227866



Internal ID11510404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43788241..43788313hg38UCSC Ensembl
chr19:44292393..44292465hg19UCSC Ensembl
chr19:48984233..48984305hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1764870
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4227866
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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