A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9846033



Internal ID6471326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6561031..6566934hg38UCSC Ensembl
Innerchr1:6561031..6566934hg38UCSC Ensembl
Outerchr1:6560531..6567434hg38UCSC Ensembl
chr1:6621091..6626994hg19UCSC Ensembl
Innerchr1:6621091..6626994hg19UCSC Ensembl
Outerchr1:6620591..6627494hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg385904
hg195904
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585108
Supporting Variants
SamplesNA21106
Known GenesTAS1R1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9846033
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