A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571891



Internal ID6696587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4807093..4807147hg38UCSC Ensembl
chr3:4848777..4848831hg19UCSC Ensembl
chr3:4823777..4823831hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987725
Supporting Variants
SamplesHuRef
Known GenesITPR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571891
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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