A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581201



Internal ID6705897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89649137..89649201hg38UCSC Ensembl
chr16:89715545..89715609hg19UCSC Ensembl
chr16:88243046..88243110hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992091
Supporting Variants
SamplesHuRef
Known GenesCHMP1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581201
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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