A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569087



Internal ID7040469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:113776106..113782151hg38UCSC Ensembl
chr7:113416161..113422206hg19UCSC Ensembl
chr7:113203397..113209442hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386046
hg196046
hg186046
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996979
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569087
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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