A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665065



Internal ID2898152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237401378..237406671hg38UCSC Ensembl
Outerchr2:237401341..237406721hg38UCSC Ensembl
Innerchr2:238310021..238315314hg19UCSC Ensembl
Outerchr2:238309984..238315364hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385381
hg195381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5830446, essv5462499, essv5899237
SamplesHG01456, HG00373, HG00116
Known GenesCOL6A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665065
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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