A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593895



Internal ID6634173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196828138..196833712hg38UCSC Ensembl
Innerchr2:196828170..196833680hg38UCSC Ensembl
Outerchr2:196828106..196833744hg38UCSC Ensembl
chr2:197692862..197698436hg19UCSC Ensembl
Innerchr2:197692894..197698404hg19UCSC Ensembl
Outerchr2:197692830..197698468hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385575
hg195575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815696
SamplesHG04022
Known GenesPGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593895
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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