A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675458



Internal ID9594877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207540668..207708840hg38UCSC Ensembl
Outerchr1:207540634..207708875hg38UCSC Ensembl
Innerchr1:207714013..207882185hg19UCSC Ensembl
Outerchr1:207713979..207882220hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38168242
hg19168242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6088405
SamplesNA12058
Known GenesCR1, CR1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675458
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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