A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12143378



Internal ID2145194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177234927..177235582hg38UCSC Ensembl
Innerchr5:177234969..177235540hg38UCSC Ensembl
Outerchr5:177234885..177235624hg38UCSC Ensembl
chr5:176661928..176662583hg19UCSC Ensembl
Innerchr5:176661970..176662541hg19UCSC Ensembl
Outerchr5:176661886..176662625hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607688
Supporting Variants
SamplesHG00536
Known GenesNSD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12143378
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