A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588681



Internal ID6976097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207951635..207961619hg38UCSC Ensembl
Innerchr1:207951635..207961619hg38UCSC Ensembl
Outerchr1:207951135..207962119hg38UCSC Ensembl
chr1:208124980..208134964hg19UCSC Ensembl
Innerchr1:208124980..208134964hg19UCSC Ensembl
Outerchr1:208124480..208135464hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg389985
hg199985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10280523
SamplesHG01497
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588681
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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