A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997261



Internal ID7081231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55551047..55555810hg38UCSC Ensembl
Outerchr7:55618740..55623503hg19UCSC Ensembl
Outerchr7:55586234..55590997hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg384764
hg194764
hg184764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564429
SamplesHuRef
Known GenesVOPP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997261
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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