A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589402



Internal ID6976730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244124063..244124632hg38UCSC Ensembl
Innerchr1:244124063..244124632hg38UCSC Ensembl
Outerchr1:244123913..244124808hg38UCSC Ensembl
chr1:244287365..244287934hg19UCSC Ensembl
Innerchr1:244287365..244287934hg19UCSC Ensembl
Outerchr1:244287215..244288110hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10359992, essv10359987, essv10359984, essv10359985, essv10359990, essv10359989, essv10359993, essv10359986, essv10359994, essv10359991, essv10359988
SamplesNA19909, NA19314, HG02111, NA19901, NA18933, NA19327, NA19455, NA19114, NA19834, HG03271, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589402
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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