A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575951



Internal ID7047333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:89273961..89274016hg38UCSC Ensembl
chr13:89926215..89926270hg19UCSC Ensembl
chr13:88724216..88724271hg18UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002796
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575951
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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