A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6117599



Internal ID9408400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169422278..169426434hg38UCSC Ensembl
Outerchr1:169421907..169426804hg38UCSC Ensembl
Innerchr1:169391516..169395672hg19UCSC Ensembl
Outerchr1:169391145..169396042hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg384898
hg194898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663262
Supporting Variants
SamplesNA18612
Known GenesCCDC181
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6117599
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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