A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12673149



Internal ID2852608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6468420..6469346hg38UCSC Ensembl
Innerchr7:6468445..6469321hg38UCSC Ensembl
Outerchr7:6468395..6469371hg38UCSC Ensembl
chr7:6508051..6508977hg19UCSC Ensembl
Innerchr7:6508076..6508952hg19UCSC Ensembl
Outerchr7:6508026..6509002hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38927
hg19927
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612031
Supporting Variants
SamplesHG02521
Known GenesKDELR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12673149
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