A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573783



Internal ID7045165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965982..53966069hg38UCSC Ensembl
chr10:55725742..55725829hg19UCSC Ensembl
chr10:55395748..55395835hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991890
Supporting Variants
SamplesHuRef
Known GenesPCDH15
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573783
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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