A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12674668



Internal ID377369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7532138..7535972hg38UCSC Ensembl
Innerchr7:7532138..7535972hg38UCSC Ensembl
Outerchr7:7532091..7536037hg38UCSC Ensembl
chr7:7571769..7575603hg19UCSC Ensembl
Innerchr7:7571769..7575603hg19UCSC Ensembl
Outerchr7:7571722..7575668hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg383835
hg193835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612089
Supporting Variants
SamplesHG00109
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12674668
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