A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871996



Internal ID1886591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39076836..39100218hg38UCSC Ensembl
Innerchr5:39076836..39100218hg38UCSC Ensembl
Outerchr5:39076757..39100357hg38UCSC Ensembl
chr5:39076938..39100320hg19UCSC Ensembl
Innerchr5:39076938..39100320hg19UCSC Ensembl
Outerchr5:39076859..39100459hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3823383
hg1923383
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604778
Supporting Variants
SamplesHG01776
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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