A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12693242



Internal ID4790346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20573374..20575535hg38UCSC Ensembl
Innerchr7:20573422..20575487hg38UCSC Ensembl
Outerchr7:20573326..20575583hg38UCSC Ensembl
chr7:20612997..20615158hg19UCSC Ensembl
Innerchr7:20613045..20615110hg19UCSC Ensembl
Outerchr7:20612949..20615206hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg382162
hg192162
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612493
Supporting Variants
SamplesNA11920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12693242
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