A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585296



Internal ID6972821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14948229..14953121hg38UCSC Ensembl
chr1:15274725..15279617hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384893
hg194893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9863435, essv9863437, essv9863433, essv9863434, essv9863436
SamplesHG03018, NA19379, HG01064, NA19380, HG00105
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585296
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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