A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593735



Internal ID6634014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189104900..189105663hg38UCSC Ensembl
Innerchr2:189104925..189105639hg38UCSC Ensembl
Outerchr2:189104876..189105688hg38UCSC Ensembl
chr2:189969626..189970389hg19UCSC Ensembl
Innerchr2:189969651..189970365hg19UCSC Ensembl
Outerchr2:189969602..189970414hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10798696
SamplesNA18623
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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