A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576811



Internal ID7048193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965965..53966052hg38UCSC Ensembl
chr10:55725725..55725812hg19UCSC Ensembl
chr10:55395731..55395818hg18UCSC 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 Variantsesv1006100
Supporting Variants
SamplesHuRef
Known GenesPCDH15
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576811
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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