A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11887756



Internal ID1889572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44794906..44795481hg38UCSC Ensembl
Innerchr5:44794906..44795481hg38UCSC Ensembl
Outerchr5:44794906..44795481hg38UCSC Ensembl
chr5:44795008..44795583hg19UCSC Ensembl
Innerchr5:44795008..44795583hg19UCSC Ensembl
Outerchr5:44795008..44795583hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604930
Supporting Variants
SamplesHG02793
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11887756
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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