A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673512



Internal ID9939617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175267781..175270162hg38UCSC Ensembl
chr1:175236917..175239298hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg382382
hg192382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6500260
SamplesNA11932
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673512
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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