A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11992425



Internal ID3865531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99378592..99379618hg38UCSC Ensembl
Innerchr5:99378594..99379616hg38UCSC Ensembl
Outerchr5:99378590..99379620hg38UCSC Ensembl
chr5:98714296..98715322hg19UCSC Ensembl
Innerchr5:98714298..98715320hg19UCSC Ensembl
Outerchr5:98714294..98715324hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605937
Supporting Variants
SamplesHG03511
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11992425
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