A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592517



Internal ID6632800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132914339..132916963hg38UCSC Ensembl
Innerchr2:132914339..132916963hg38UCSC Ensembl
Outerchr2:132913991..132917143hg38UCSC Ensembl
chr2:133671912..133674536hg19UCSC Ensembl
Innerchr2:133671912..133674536hg19UCSC Ensembl
Outerchr2:133671564..133674716hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg382625
hg192625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10679965, essv10679957, essv10679966, essv10679968, essv10679962, essv10679967, essv10679960, essv10679956, essv10679972, essv10679970, essv10679959, essv10679958, essv10679964, essv10679973, essv10679971, essv10679961, essv10679963, essv10679969
SamplesHG03652, HG01438, HG04194, HG00177, HG01500, NA19678, HG00334, HG01767, HG00290, HG01360, NA20787, NA12878, NA20809, HG01612, HG00320, HG03745, NA12144, HG01468
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592517
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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