A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670396



Internal ID9589815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176859622..176859953hg38UCSC Ensembl
Outerchr5:176859585..176860003hg38UCSC Ensembl
Innerchr5:176286623..176286954hg19UCSC Ensembl
Outerchr5:176286586..176287004hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6509218, essv5587622, essv5599634, essv5851267, essv5409534, essv6331048, essv6285139, essv6136294
SamplesHG00428, HG00475, HG00699, NA18620, HG00268, HG00525, HG00708, HG00324
Known GenesUNC5A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670396
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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