A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12018555



Internal ID1902220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110230727..110300041hg38UCSC Ensembl
Innerchr5:110230727..110300041hg38UCSC Ensembl
Outerchr5:110230227..110300541hg38UCSC Ensembl
chr5:109566428..109635742hg19UCSC Ensembl
Innerchr5:109566428..109635742hg19UCSC Ensembl
Outerchr5:109565928..109636242hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3869315
hg1969315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606242
Supporting Variants
SamplesHG01785
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12018555
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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