A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586426



Internal ID6973947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72983387..72991751hg38UCSC Ensembl
Innerchr1:72983887..72991251hg38UCSC Ensembl
Outerchr1:72982387..72992751hg38UCSC Ensembl
chr1:73449070..73457434hg19UCSC Ensembl
Innerchr1:73449570..73456934hg19UCSC Ensembl
Outerchr1:73448070..73458434hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388365
hg198365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27e214
Supporting Variantsessv9972481
SamplesHG03472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586426
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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