A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10778439



Internal ID5096001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177964479..177964930hg38UCSC Ensembl
Innerchr2:177964498..177964912hg38UCSC Ensembl
Outerchr2:177964461..177964949hg38UCSC Ensembl
chr2:178829206..178829657hg19UCSC Ensembl
Innerchr2:178829225..178829639hg19UCSC Ensembl
Outerchr2:178829188..178829676hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593479
Supporting Variants
SamplesNA18550
Known GenesPDE11A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10778439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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