A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5695801



Internal ID9232320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:99772459..99776522hg38UCSC Ensembl
Outerchr3:99772422..99776572hg38UCSC Ensembl
Innerchr3:99491303..99495366hg19UCSC Ensembl
Outerchr3:99491266..99495416hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg384151
hg194151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666929
Supporting Variants
SamplesNA11920
Known GenesCOL8A1, MIR548G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5695801
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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