A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676307



Internal ID9595726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137780167..137780318hg38UCSC Ensembl
chr9:140674619..140674770hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6458451, essv5756989, essv5808657, essv5663234, essv5447157
SamplesNA19311, HG01101, HG00256, NA19398, NA19394
Known GenesEHMT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676307
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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