A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062439



Internal ID973440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130527856..130538444hg38UCSC Ensembl
Innerchr5:130527882..130538419hg38UCSC Ensembl
Outerchr5:130527831..130538470hg38UCSC Ensembl
chr5:129863549..129874137hg19UCSC Ensembl
Innerchr5:129863575..129874112hg19UCSC Ensembl
Outerchr5:129863524..129874163hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3810589
hg1910589
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606780
Supporting Variants
SamplesHG00599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062439
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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