A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563806



Internal ID7034906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222003637..222006978hg38UCSC Ensembl
Outerchr1:222176979..222180320hg19UCSC Ensembl
Outerchr1:220243602..220246943hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383342
hg193342
hg183342
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009077
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563806
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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