A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663733



Internal ID9929838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241192069..241207612hg38UCSC Ensembl
chr1:241355369..241370912hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3815544
hg1915544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6542193, essv6393001
SamplesHG00611, NA19004
Known GenesRGS7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663733
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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