A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586225



Internal ID6626538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62013578..62015009hg38UCSC Ensembl
Innerchr1:62013628..62014959hg38UCSC Ensembl
Outerchr1:62013514..62015073hg38UCSC Ensembl
chr1:62479250..62480681hg19UCSC Ensembl
Innerchr1:62479300..62480631hg19UCSC Ensembl
Outerchr1:62479186..62480745hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9948185, essv9948184
SamplesHG00513, HG00442
Known GenesINADL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586225
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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