A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677487



Internal ID9943592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30286067..30662031hg38UCSC Ensembl
chr1:30758914..31134878hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38375965
hg19375965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv36e199
Supporting Variantsessv5530444, essv6181596
SamplesHG00249, NA11843
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677487
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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