A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658126



Internal ID9924231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37056287..37057106hg38UCSC Ensembl
chr1:37521888..37522707hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6417490, essv6431827, essv5893877, essv5655796, essv6565297
SamplesNA19332, HG00640, NA19917, NA18908, HG01204
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658126
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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