A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663806



Internal ID9583225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44555599..44556685hg38UCSC Ensembl
chr1:45021271..45022357hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e199
Supporting Variantsessv5942733, essv6349914, essv5521020
SamplesNA19469, NA19463, NA20332
Known GenesRNF220
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663806
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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