A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11887042



Internal ID4132797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44644615..44657450hg38UCSC Ensembl
Innerchr5:44644615..44657450hg38UCSC Ensembl
Outerchr5:44644115..44657950hg38UCSC Ensembl
chr5:44644717..44657552hg19UCSC Ensembl
Innerchr5:44644717..44657552hg19UCSC Ensembl
Outerchr5:44644217..44658052hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3812836
hg1912836
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604926
Supporting Variants
SamplesHG03744
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11887042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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