A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656693



Internal ID9576112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30589907..30627392hg38UCSC Ensembl
chr2:30812773..30850258hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3837486
hg1937486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv689e199
Supporting Variantsessv5898598
SamplesHG00133
Known GenesLCLAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656693
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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