A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607607



Internal ID6647847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173069976..173074704hg38UCSC Ensembl
Innerchr5:173070476..173074204hg38UCSC Ensembl
Outerchr5:173068976..173075704hg38UCSC Ensembl
chr5:172496979..172501707hg19UCSC Ensembl
Innerchr5:172497479..172501207hg19UCSC Ensembl
Outerchr5:172495979..172502707hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384729
hg194729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134141, essv12134142, essv12134143, essv12134144
SamplesHG03861, HG03784, HG03717, HG01979
Known GenesCREBRF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607607
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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