A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10269661



Internal ID271477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204585680..204625853hg38UCSC Ensembl
chr1:204554808..204594981hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3840174
hg1940174
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588622
Supporting Variants
SamplesHG02675
Known GenesLRRN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10269661
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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