A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12068548



Internal ID6752552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135904180..135917734hg38UCSC Ensembl
Innerchr5:135904206..135917708hg38UCSC Ensembl
Outerchr5:135904154..135917760hg38UCSC Ensembl
chr5:135239869..135253423hg19UCSC Ensembl
Innerchr5:135239895..135253397hg19UCSC Ensembl
Outerchr5:135239843..135253449hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3813555
hg1913555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606869
Supporting Variants
SamplesNA20866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12068548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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