A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116548



Internal ID2118364
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607380
Supporting Variants
SamplesHG01528
Known GenesATP10B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116548
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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