A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606242



Internal ID6993178
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1123e214
Supporting Variantsessv12018555
SamplesHG01785
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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