A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4130011



Internal ID11412550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115633687..115634162hg38UCSC Ensembl
chr5:114969384..114969859hg19UCSC Ensembl
chr5:114997283..114997758hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38476
hg19476
hg18476
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1402507
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4130011
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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