A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12079328



Internal ID2035369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141673945..141677492hg38UCSC Ensembl
Innerchr5:141673963..141677474hg38UCSC Ensembl
Outerchr5:141673927..141677510hg38UCSC Ensembl
chr5:141053512..141057059hg19UCSC Ensembl
Innerchr5:141053530..141057041hg19UCSC Ensembl
Outerchr5:141053494..141057077hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606989
Supporting Variants
SamplesHG01866
Known GenesARAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12079328
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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