A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1210256



Internal ID12026693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71433790..71433790hg38UCSC Ensembl
chr10:73193547..73193547hg19UCSC Ensembl
chr10:72863553..72863553hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3876832
SamplesHuRef
Known GenesCDH23
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1210256
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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