A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589195



Internal ID6972130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235388176..235397239hg38UCSC Ensembl
Innerchr1:235388676..235396739hg38UCSC Ensembl
Outerchr1:235387176..235398239hg38UCSC Ensembl
chr1:235551491..235560554hg19UCSC Ensembl
Innerchr1:235551991..235560054hg19UCSC Ensembl
Outerchr1:235550491..235561554hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg389064
hg199064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10332900, essv10332899
SamplesNA19072, HG03611
Known GenesTBCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589195
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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