A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3686243



Internal ID11728940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120521865..120522036hg38UCSC Ensembl
chr8:121534105..121534276hg19UCSC Ensembl
chr8:121603286..121603457hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1399764
Supporting Variants
SamplesHuRef
Known GenesMTBP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3686243
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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