A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563844



Internal ID7034944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210654198..210656140hg38UCSC Ensembl
Outerchr1:210827542..210829484hg19UCSC Ensembl
Outerchr1:208894165..208896107hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386790
hg196790
hg186790
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002583
Supporting Variants
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563844
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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