A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587919



Internal ID6628219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172208819..172210774hg38UCSC Ensembl
Innerchr1:172208836..172210758hg38UCSC Ensembl
Outerchr1:172208803..172210791hg38UCSC Ensembl
chr1:172177959..172179914hg19UCSC Ensembl
Innerchr1:172177976..172179898hg19UCSC Ensembl
Outerchr1:172177943..172179931hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg381956
hg191956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10188426
SamplesNA18645
Known GenesDNM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587919
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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