A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10312424



Internal ID6955643
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589049
Supporting Variants
SamplesNA21135
Known GenesOBSCN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10312424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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