A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12068721



Internal ID3297138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136541079..136545106hg38UCSC Ensembl
Innerchr5:136541079..136545106hg38UCSC Ensembl
Outerchr5:136540788..136545497hg38UCSC Ensembl
chr5:135876768..135880795hg19UCSC Ensembl
Innerchr5:135876768..135880795hg19UCSC Ensembl
Outerchr5:135876477..135881186hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384028
hg194028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606882
Supporting Variants
SamplesHG02941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12068721
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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