A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587888



Internal ID6975311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170154565..170159142hg38UCSC Ensembl
Innerchr1:170154565..170159142hg38UCSC Ensembl
Outerchr1:170154424..170159266hg38UCSC Ensembl
chr1:170123706..170128283hg19UCSC Ensembl
Innerchr1:170123706..170128283hg19UCSC Ensembl
Outerchr1:170123565..170128407hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384578
hg194578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10186539, essv10186538, essv10186541, essv10186540, essv10186543, essv10186542
SamplesNA12383, HG01773, NA20356, NA20589, HG04206, NA19773
Known GenesMETTL11B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587888
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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