A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11802088



Internal ID3746651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6380832..6383779hg38UCSC Ensembl
Innerchr5:6380863..6383748hg38UCSC Ensembl
Outerchr5:6380801..6383810hg38UCSC Ensembl
chr5:6380945..6383892hg19UCSC Ensembl
Innerchr5:6380976..6383861hg19UCSC Ensembl
Outerchr5:6380914..6383923hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603915
Supporting Variants
SamplesHG03378
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11802088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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