A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591842



Internal ID6632126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105810087..105813518hg38UCSC Ensembl
Innerchr2:105810134..105813472hg38UCSC Ensembl
Outerchr2:105810041..105813565hg38UCSC Ensembl
chr2:106426544..106429975hg19UCSC Ensembl
Innerchr2:106426591..106429929hg19UCSC Ensembl
Outerchr2:106426498..106430022hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg383432
hg193432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10599273
SamplesHG03039
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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