A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672906



Internal ID9939011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74268073..74269064hg38UCSC Ensembl
chr8:75180308..75181299hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38992
hg19992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6168736
SamplesNA19908
Known GenesJPH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672906
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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