A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994753



Internal ID7079288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47555245..47557078hg38UCSC Ensembl
Outerchr7:47594843..47596676hg19UCSC Ensembl
Outerchr7:47561368..47563201hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381834
hg191834
hg181834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565412
SamplesHuRef
Known GenesTNS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994753
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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