A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577092



Internal ID6701788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83764629..83764698hg38UCSC Ensembl
chr16:83798234..83798303hg19UCSC Ensembl
chr16:82355735..82355804hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003403
Supporting Variants
SamplesHuRef
Known GenesCDH13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577092
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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