A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657900



Internal ID9924005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45301244..45302854hg38UCSC Ensembl
Outerchr1:45301207..45302904hg38UCSC Ensembl
Innerchr1:45766916..45768526hg19UCSC Ensembl
Outerchr1:45766879..45768576hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381698
hg191698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5685255, essv6307592
SamplesNA19077, NA20536
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657900
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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