A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657612



Internal ID9577031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107680189..107682609hg38UCSC Ensembl
chr1:108222811..108225231hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382421
hg192421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6228013, essv5716038
SamplesHG01378, HG01462
Known GenesVAV3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657612
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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