A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589349



Internal ID6976677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241673262..241701221hg38UCSC Ensembl
Innerchr1:241673266..241701217hg38UCSC Ensembl
Outerchr1:241673258..241701225hg38UCSC Ensembl
chr1:241836564..241864523hg19UCSC Ensembl
Innerchr1:241836568..241864519hg19UCSC Ensembl
Outerchr1:241836560..241864527hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3827960
hg1927960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10355548
SamplesHG02811
Known GenesWDR64
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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