A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676378



Internal ID9942483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:18356743..18357566hg38UCSC Ensembl
Outerchr7:18356586..18357719hg38UCSC Ensembl
Innerchr7:18396366..18397189hg19UCSC Ensembl
Outerchr7:18396209..18397342hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5790987
SamplesHG00260
Known GenesHDAC9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676378
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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