A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604834



Internal ID6991862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40982040..40985447hg38UCSC Ensembl
Innerchr5:40982070..40985417hg38UCSC Ensembl
Outerchr5:40982010..40985477hg38UCSC Ensembl
chr5:40982142..40985549hg19UCSC Ensembl
Innerchr5:40982172..40985519hg19UCSC Ensembl
Outerchr5:40982112..40985579hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11879604, essv11879603
SamplesNA18566, NA19009
Known GenesC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604834
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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