A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12761045



Internal ID6903508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47559443..47563212hg38UCSC Ensembl
Innerchr7:47559464..47563192hg38UCSC Ensembl
Outerchr7:47559423..47563233hg38UCSC Ensembl
chr7:47599041..47602810hg19UCSC Ensembl
Innerchr7:47599062..47602790hg19UCSC Ensembl
Outerchr7:47599021..47602831hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg383770
hg193770
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613063
Supporting Variants
SamplesNA21110
Known GenesTNS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12761045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer