A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678009



Internal ID9597428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150855945..150865083hg38UCSC Ensembl
Outerchr7:150855788..150865236hg38UCSC Ensembl
Innerchr7:150553033..150562171hg19UCSC Ensembl
Outerchr7:150552876..150562324hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg389449
hg199449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6338942, essv5574125, essv5943267
SamplesNA19660, NA11843, NA19664
Known GenesAOC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678009
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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