A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4246807



Internal ID11529345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53921159..53921669hg38UCSC Ensembl
chr19:54424413..54424923hg19UCSC Ensembl
chr19:59116225..59116735hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38511
hg19511
hg18511
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1297128
Supporting Variants
SamplesHuRef
Known GenesCACNG7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4246807
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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