A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11956705



Internal ID1835063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81389663..81390643hg38UCSC Ensembl
Innerchr5:81389689..81390618hg38UCSC Ensembl
Outerchr5:81389638..81390669hg38UCSC Ensembl
chr5:80685482..80686462hg19UCSC Ensembl
Innerchr5:80685508..80686437hg19UCSC Ensembl
Outerchr5:80685457..80686488hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605593
Supporting Variants
SamplesHG01704
Known GenesACOT12, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11956705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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