A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4240399



Internal ID11522937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133548994..133549318hg38UCSC Ensembl
chr9:136414116..136414440hg19UCSC Ensembl
chr9:135403937..135404261hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1693178
Supporting Variants
SamplesHuRef
Known GenesADAMTSL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4240399
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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