A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565412



Internal ID7036794
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994753
Supporting Variants
SamplesHuRef
Known GenesTNS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565412
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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