A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12136085



Internal ID1025048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174821337..174822096hg38UCSC Ensembl
Innerchr5:174821337..174822096hg38UCSC Ensembl
Outerchr5:174821109..174822386hg38UCSC Ensembl
chr5:174248340..174249099hg19UCSC Ensembl
Innerchr5:174248340..174249099hg19UCSC Ensembl
Outerchr5:174248112..174249389hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607638
Supporting Variants
SamplesHG00641
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12136085
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