A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564897



Internal ID7035997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220434221..220440104hg38UCSC Ensembl
Outerchr1:220607563..220613446hg19UCSC Ensembl
Outerchr1:218674186..218680069hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385884
hg195884
hg185884
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009136
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564897
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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