A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587879



Internal ID6975302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169174963..169178847hg38UCSC Ensembl
Innerchr1:169174964..169178847hg38UCSC Ensembl
Outerchr1:169174963..169178848hg38UCSC Ensembl
chr1:169144201..169148085hg19UCSC Ensembl
Innerchr1:169144202..169148085hg19UCSC Ensembl
Outerchr1:169144201..169148086hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg383885
hg193885
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10183620, essv10183618, essv10183613, essv10183616, essv10183617, essv10183615, essv10183619, essv10183612, essv10183621, essv10183611, essv10183614, essv10183610
SamplesNA19443, NA19319, HG03370, NA19038, NA19404, NA19383, NA19471, NA19908, NA19035, NA19390, HG02938, NA19346
Known GenesNME7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587879
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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