A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591844



Internal ID6632128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105822274..105824282hg38UCSC Ensembl
Innerchr2:105822274..105824282hg38UCSC Ensembl
Outerchr2:105821993..105824576hg38UCSC Ensembl
chr2:106438730..106440738hg19UCSC Ensembl
Innerchr2:106438730..106440738hg19UCSC Ensembl
Outerchr2:106438449..106441032hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382009
hg192009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10599294, essv10599297, essv10599280, essv10599287, essv10599285, essv10599291, essv10599275, essv10599296, essv10599278, essv10599312, essv10599295, essv10599303, essv10599305, essv10599307, essv10599283, essv10599300, essv10599314, essv10599281, essv10599276, essv10599293, essv10599279, essv10599288, essv10599284, essv10599306, essv10599304, essv10599298, essv10599286, essv10599299, essv10599309, essv10599311, essv10599308, essv10599290, essv10599282, essv10599292, essv10599313, essv10599277, essv10599310, essv10599301, essv10599289, essv10599302
SamplesHG02470, NA19312, NA19625, NA19436, HG02970, HG03521, HG03410, NA18501, HG02255, HG02943, HG02722, NA20321, HG03294, NA18488, HG02976, NA18505, NA20320, HG03114, NA19247, NA19395, HG03190, NA20291, HG03455, NA18923, HG01271, NA19238, NA20334, NA19704, NA19707, NA19131, NA19462, NA20355, NA19921, HG03367, NA20274, HG03078, NA19160, NA19315, HG03557, HG03271
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591844
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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