A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854942



Internal ID3676887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31617001..31621412hg38UCSC Ensembl
Innerchr5:31617033..31621380hg38UCSC Ensembl
Outerchr5:31616969..31621444hg38UCSC Ensembl
chr5:31617108..31621519hg19UCSC Ensembl
Innerchr5:31617140..31621487hg19UCSC Ensembl
Outerchr5:31617076..31621551hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384412
hg194412
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604583
Supporting Variants
SamplesHG03279
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer