A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592209



Internal ID6632492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121558675..122131149hg38UCSC Ensembl
Innerchr2:121558825..122130999hg38UCSC Ensembl
Outerchr2:121558525..122131299hg38UCSC Ensembl
chr2:122316251..122888725hg19UCSC Ensembl
Innerchr2:122316401..122888575hg19UCSC Ensembl
Outerchr2:122316101..122888875hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38572475
hg19572475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10644353
SamplesHG03978
Known GenesCLASP1, NIFK, NIFK-AS1, TSN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592209
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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