A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994644



Internal ID6730594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46466614..46468141hg38UCSC Ensembl
Outerchr13:47040749..47042276hg19UCSC Ensembl
Outerchr13:45938750..45940277hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381528
hg191528
hg181528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564838
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994644
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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