A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010133



Internal ID7074198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47589675..47595458hg38UCSC Ensembl
Outerchr7:47629273..47635056hg19UCSC Ensembl
Outerchr7:47595798..47601581hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg385784
hg195784
hg185784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564117
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010133
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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