A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988509



Internal ID6724480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46718992..46718992hg38UCSC Ensembl
chr13:47293127..47293127hg19UCSC Ensembl
chr13:46191128..46191128hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584289
SamplesHuRef
Known GenesLRCH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988509
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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