A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006246



Internal ID7071339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81858346..81858665hg38UCSC Ensembl
chr3:81907497..81907816hg19UCSC Ensembl
chr3:81990187..81990506hg18UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38320
hg19320
hg18320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3570421
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006246
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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