A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6211671



Internal ID9189074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42809022..42810326hg38UCSC Ensembl
Outerchr1:42808865..42810479hg38UCSC Ensembl
Innerchr1:43274693..43275997hg19UCSC Ensembl
Outerchr1:43274536..43276150hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381615
hg191615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668067
Supporting Variants
SamplesHG00237
Known GenesCCDC23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6211671
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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