A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678312



Internal ID9597731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112434804..112437710hg38UCSC Ensembl
chr9:115197084..115199990hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg382907
hg192907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6429482, essv5825676, essv6125647, essv5729269, essv6398469, essv6428448
SamplesNA19703, NA19313, NA19247, NA19655, NA19435, NA19474
Known GenesHSDL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678312
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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