A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000403



Internal ID7065533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126959270..126967807hg38UCSC Ensembl
Outerchr2:127716846..127725383hg19UCSC Ensembl
Outerchr2:127433316..127441853hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg388538
hg198538
hg188538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565206
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000403
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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