A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6252051



Internal ID9229454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104131789..104134352hg38UCSC Ensembl
chr7:103772236..103774799hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382564
hg192564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676459
Supporting Variants
SamplesNA20299
Known GenesORC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6252051
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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