A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868677



Internal ID1870493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36040765..36045858hg38UCSC Ensembl
Innerchr5:36040786..36045838hg38UCSC Ensembl
Outerchr5:36040745..36045879hg38UCSC Ensembl
chr5:36040867..36045960hg19UCSC Ensembl
Innerchr5:36040888..36045940hg19UCSC Ensembl
Outerchr5:36040847..36045981hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg385094
hg195094
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604711
Supporting Variants
SamplesHG02348
Known GenesUGT3A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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