A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871309



Internal ID3439178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37887931..37896311hg38UCSC Ensembl
Innerchr5:37887940..37896302hg38UCSC Ensembl
Outerchr5:37887922..37896320hg38UCSC Ensembl
chr5:37888033..37896413hg19UCSC Ensembl
Innerchr5:37888042..37896404hg19UCSC Ensembl
Outerchr5:37888024..37896422hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg388381
hg198381
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604756
Supporting Variants
SamplesHG03072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871309
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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