A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657006



Internal ID9923111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72545431..72627421hg38UCSC Ensembl
chr1:73011114..73093104hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3881991
hg1981991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6379231, essv5475571
SamplesHG00244, NA12889
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657006
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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