A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589049



Internal ID6976466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228252081..228253776hg38UCSC Ensembl
Innerchr1:228252083..228253774hg38UCSC Ensembl
Outerchr1:228252079..228253778hg38UCSC Ensembl
chr1:228439782..228441477hg19UCSC Ensembl
Innerchr1:228439784..228441475hg19UCSC Ensembl
Outerchr1:228439780..228441479hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10312422, essv10312423, essv10312424
SamplesNA21135, HG02687, NA21109
Known GenesOBSCN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589049
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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