A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587846



Internal ID6628147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167428680..167430818hg38UCSC Ensembl
Innerchr1:167428720..167430779hg38UCSC Ensembl
Outerchr1:167428641..167430858hg38UCSC Ensembl
chr1:167397917..167400055hg19UCSC Ensembl
Innerchr1:167397957..167400016hg19UCSC Ensembl
Outerchr1:167397878..167400095hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382139
hg192139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10181343
SamplesHG02390
Known GenesCD247
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587846
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