A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564134



Internal ID7035234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21864040..21885841hg38UCSC Ensembl
Outerchr1:22190533..22212334hg19UCSC Ensembl
Outerchr1:22063120..22084921hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3821802
hg1921802
hg1821802
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003020
Supporting Variants
SamplesHuRef
Known GenesHSPG2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564134
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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