A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4047233



Internal ID11714641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128880631..128881270hg38UCSC Ensembl
chr9:131642910..131643549hg19UCSC Ensembl
chr9:130682731..130683370hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38640
hg19640
hg18640
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1079251
Supporting Variants
SamplesHuRef
Known GenesCCBL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4047233
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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