A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593568



Internal ID6980892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182552534..182554397hg38UCSC Ensembl
Innerchr2:182552584..182554347hg38UCSC Ensembl
Outerchr2:182552484..182554447hg38UCSC Ensembl
chr2:183417261..183419124hg19UCSC Ensembl
Innerchr2:183417311..183419074hg19UCSC Ensembl
Outerchr2:183417211..183419174hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381864
hg191864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10788691, essv10788690, essv10788692
SamplesHG03785, HG04017, HG04026
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593568
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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