A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11765192



Internal ID1440413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:97635..100967hg38UCSC Ensembl
Innerchr5:97635..100967hg38UCSC Ensembl
Outerchr5:97514..101257hg38UCSC Ensembl
chr5:97750..101082hg19UCSC Ensembl
Innerchr5:97750..101082hg19UCSC Ensembl
Outerchr5:97629..101372hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383333
hg193333
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603730
Supporting Variants
SamplesHG01326
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11765192
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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