A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4163717



Internal ID11446255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:89273960..89274020hg38UCSC Ensembl
chr13:89926214..89926274hg19UCSC Ensembl
chr13:88724215..88724275hg18UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1743229
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4163717
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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