A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12123915



Internal ID1815245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:164732554..164780612hg38UCSC Ensembl
Innerchr5:164732572..164780594hg38UCSC Ensembl
Outerchr5:164732536..164780630hg38UCSC Ensembl
chr5:164159560..164207618hg19UCSC Ensembl
Innerchr5:164159578..164207600hg19UCSC Ensembl
Outerchr5:164159542..164207636hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3848059
hg1948059
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607482
Supporting Variants
SamplesHG01686
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12123915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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