A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12906234



Internal ID4458843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99073842..99076125hg38UCSC Ensembl
Innerchr7:99073870..99076098hg38UCSC Ensembl
Outerchr7:99073815..99076153hg38UCSC Ensembl
chr7:98671465..98673748hg19UCSC Ensembl
Innerchr7:98671493..98673721hg19UCSC Ensembl
Outerchr7:98671438..98673776hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382284
hg192284
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614268
Supporting Variants
SamplesHG03965
Known GenesSMURF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12906234
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