A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589329



Internal ID6976657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241016364..241017299hg38UCSC Ensembl
Innerchr1:241016400..241017263hg38UCSC Ensembl
Outerchr1:241016328..241017335hg38UCSC Ensembl
chr1:241179664..241180599hg19UCSC Ensembl
Innerchr1:241179700..241180563hg19UCSC Ensembl
Outerchr1:241179628..241180635hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10353242
SamplesNA19649
Known GenesRGS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589329
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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