A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592516



Internal ID6632799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132912099..132916928hg38UCSC Ensembl
Innerchr2:132912126..132916902hg38UCSC Ensembl
Outerchr2:132912073..132916955hg38UCSC Ensembl
chr2:133669672..133674501hg19UCSC Ensembl
Innerchr2:133669699..133674475hg19UCSC Ensembl
Outerchr2:133669646..133674528hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg384830
hg194830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10679952, essv10679950, essv10679953, essv10679955, essv10679951, essv10679954
SamplesHG03652, HG00182, NA20787, HG00190, NA12144, HG00280
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592516
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer