A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606940



Internal ID6993875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139547653..139553917hg38UCSC Ensembl
Innerchr5:139547803..139553767hg38UCSC Ensembl
Outerchr5:139547503..139554067hg38UCSC Ensembl
chr5:138927238..138933502hg19UCSC Ensembl
Innerchr5:138927388..138933352hg19UCSC Ensembl
Outerchr5:138927088..138933652hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386265
hg196265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12075989, essv12075990, essv12075988
SamplesNA18998, NA19009, NA19060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606940
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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