A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606994



Internal ID6993929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142195970..142208117hg38UCSC Ensembl
Innerchr5:142195970..142208117hg38UCSC Ensembl
Outerchr5:142195470..142208617hg38UCSC Ensembl
chr5:141575535..141587682hg19UCSC Ensembl
Innerchr5:141575535..141587682hg19UCSC Ensembl
Outerchr5:141575035..141588182hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3812148
hg1912148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12079455
SamplesHG03163
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606994
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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