A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12917708



Internal ID2186510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107445487..107449278hg38UCSC Ensembl
Innerchr7:107445487..107449278hg38UCSC Ensembl
Outerchr7:107444987..107449778hg38UCSC Ensembl
chr7:107085932..107089723hg19UCSC Ensembl
Innerchr7:107085932..107089723hg19UCSC Ensembl
Outerchr7:107085432..107090223hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg383792
hg193792
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614459
Supporting Variants
SamplesHG01973
Known GenesCOG5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12917708
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