A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4281906



Internal ID11217758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14621533..14623330hg38UCSC Ensembl
chr19:14732345..14734142hg19UCSC Ensembl
chr19:14593345..14595142hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1027269
Supporting Variants
SamplesHuRef
Known GenesEMR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4281906
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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