A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075651



Internal ID4693533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137845613..137852312hg38UCSC Ensembl
Innerchr5:137845613..137852312hg38UCSC Ensembl
Outerchr5:137845244..137852791hg38UCSC Ensembl
chr5:137181302..137188001hg19UCSC Ensembl
Innerchr5:137181302..137188001hg19UCSC Ensembl
Outerchr5:137180933..137188480hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606911
Supporting Variants
SamplesHG04214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075651
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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