A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004182



Internal ID6716308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71496824..71496943hg38UCSC Ensembl
chr10:73256581..73256700hg19UCSC Ensembl
chr10:72926587..72926706hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38120
hg19120
hg18120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583810
SamplesHuRef
Known GenesCDH23
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004182
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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