A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657431



Internal ID9576850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231752893..231757304hg38UCSC Ensembl
Outerchr2:231752856..231757354hg38UCSC Ensembl
Innerchr2:232617603..232622014hg19UCSC Ensembl
Outerchr2:232617566..232622064hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384499
hg194499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6554433
SamplesNA19471
Known GenesPDE6D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657431
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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