A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607380



Internal ID6647621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160759787..160802856hg38UCSC Ensembl
Innerchr5:160759937..160802706hg38UCSC Ensembl
Outerchr5:160759637..160803006hg38UCSC Ensembl
chr5:160186794..160229863hg19UCSC Ensembl
Innerchr5:160186944..160229713hg19UCSC Ensembl
Outerchr5:160186644..160230013hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3843070
hg1943070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12116549, essv12116548
SamplesHG01528, NA19917
Known GenesATP10B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607380
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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