A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588134



Internal ID6628434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185064271..185073474hg38UCSC Ensembl
Innerchr1:185064277..185073468hg38UCSC Ensembl
Outerchr1:185064265..185073480hg38UCSC Ensembl
chr1:185033403..185042606hg19UCSC Ensembl
Innerchr1:185033409..185042600hg19UCSC Ensembl
Outerchr1:185033397..185042612hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389204
hg199204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10211723
SamplesNA19764
Known GenesRNF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588134
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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