A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4359843



Internal ID11295695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83764746..83764816hg38UCSC Ensembl
chr16:83798351..83798421hg19UCSC Ensembl
chr16:82355852..82355922hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1572586
Supporting Variants
SamplesHuRef
Known GenesCDH13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4359843
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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