A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11920825



Internal ID2674871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58652906..58659077hg38UCSC Ensembl
Innerchr5:58652924..58659059hg38UCSC Ensembl
Outerchr5:58652888..58659095hg38UCSC Ensembl
chr5:57948733..57954904hg19UCSC Ensembl
Innerchr5:57948751..57954886hg19UCSC Ensembl
Outerchr5:57948715..57954922hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386172
hg196172
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605160
Supporting Variants
SamplesHG02371
Known GenesRAB3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11920825
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