A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000808



Internal ID7065938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212909998..212914104hg38UCSC Ensembl
Outerchr1:213083340..213087446hg19UCSC Ensembl
Outerchr1:211149963..211154069hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg384107
hg194107
hg184107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564326
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000808
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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