A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10679972



Internal ID681788
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592517
Supporting Variants
SamplesNA20787
Known GenesMIR7853, NCKAP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10679972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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