A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3617592



Internal ID11797590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138018495..138019605hg38UCSC Ensembl
chr9:140912947..140914057hg19UCSC Ensembl
chr9:140032768..140033878hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1367927
Supporting Variants
SamplesHuRef
Known GenesCACNA1B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3617592
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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