A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594632



Internal ID6634908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231752729..231757474hg38UCSC Ensembl
Innerchr2:231753229..231756974hg38UCSC Ensembl
Outerchr2:231751729..231758474hg38UCSC Ensembl
chr2:232617439..232622184hg19UCSC Ensembl
Innerchr2:232617939..232621684hg19UCSC Ensembl
Outerchr2:232616439..232623184hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384746
hg194746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876672, essv10876674, essv10876673
SamplesNA19471, NA19043, NA19475
Known GenesPDE6D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594632
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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