A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585941



Internal ID6973460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46880899..46897978hg38UCSC Ensembl
Innerchr1:46881399..46897478hg38UCSC Ensembl
Outerchr1:46879899..46898978hg38UCSC Ensembl
chr1:47346571..47363650hg19UCSC Ensembl
Innerchr1:47347071..47363150hg19UCSC Ensembl
Outerchr1:47345571..47364650hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3817080
hg1917080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9926498, essv9926486, essv9926493, essv9926489, essv9926490, essv9926496, essv9926495, essv9926492, essv9926497, essv9926494, essv9926488, essv9926499, essv9926491, essv9926487
SamplesHG00592, HG01802, HG00422, HG00543, HG02084, HG00436, HG00598, NA18572, HG01029, HG00651, HG02184, NA18632, HG02188, HG00593
Known GenesCYP4Z2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585941
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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