A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12101051



Internal ID6573991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151707143..151708904hg38UCSC Ensembl
Innerchr5:151707143..151708904hg38UCSC Ensembl
Outerchr5:151707036..151708973hg38UCSC Ensembl
chr5:151086704..151088465hg19UCSC Ensembl
Innerchr5:151086704..151088465hg19UCSC Ensembl
Outerchr5:151086597..151088534hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381762
hg191762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607182
Supporting Variants
SamplesNA20761
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12101051
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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