A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591841



Internal ID6632125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105783402..105785168hg38UCSC Ensembl
Innerchr2:105783427..105785144hg38UCSC Ensembl
Outerchr2:105783378..105785193hg38UCSC Ensembl
chr2:106399859..106401625hg19UCSC Ensembl
Innerchr2:106399884..106401601hg19UCSC Ensembl
Outerchr2:106399835..106401650hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381767
hg191767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10599272
SamplesHG00458
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591841
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