A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585108



Internal ID6972632
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9846032, essv9846030, essv9846031, essv9846033
SamplesHG03873, NA21106, HG03953, HG03998
Known GenesTAS1R1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585108
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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