A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563935



Internal ID6688318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182573456..182616228hg38UCSC Ensembl
Outerchr1:182542591..182585363hg19UCSC Ensembl
Outerchr1:180809214..180851986hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3842773
hg1942773
hg1842773
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010175
Supporting Variants
SamplesHuRef
Known GenesLOC284648, RGS16, RNASEL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563935
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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