A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002315



Internal ID7067431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:98745012..98752512hg38UCSC Ensembl
Outerchr2:99361475..99368975hg19UCSC Ensembl
Outerchr2:98727907..98735407hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387501
hg197501
hg187501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563461
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002315
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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