A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657230



Internal ID9923335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30641905..30652996hg38UCSC Ensembl
Outerchr2:30641748..30653149hg38UCSC Ensembl
Innerchr2:30864771..30875862hg19UCSC Ensembl
Outerchr2:30864614..30876015hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3811402
hg1911402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6469530
SamplesHG00133
Known GenesLCLAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657230
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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