A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6228013



Internal ID9205416
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 Flag1
Merged StatusS
Merged Variantsesv2657612
Supporting Variants
SamplesHG01378
Known GenesVAV3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6228013
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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