A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12019341



Internal ID2021157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110985051..111262481hg38UCSC Ensembl
Innerchr5:110985051..111262481hg38UCSC Ensembl
Outerchr5:110984551..111262981hg38UCSC Ensembl
chr5:110320750..110598179hg19UCSC Ensembl
Innerchr5:110320750..110598179hg19UCSC Ensembl
Outerchr5:110320250..110598679hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38277431
hg19277430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606259
Supporting Variants
SamplesNA20803
Known GenesCAMK4, TSLP, WDR36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12019341
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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