A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662800



Internal ID2895887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17034506..17036842hg38UCSC Ensembl
chr1:17361001..17363337hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382337
hg192337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6458674, essv5515375, essv5534174, essv6493736, essv6032694
SamplesHG01488, HG01174, HG01066, HG00151, NA19723
Known GenesSDHB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662800
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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