A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11950694



Internal ID2131382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78906390..78930240hg38UCSC Ensembl
Innerchr5:78906390..78930240hg38UCSC Ensembl
Outerchr5:78905890..78930740hg38UCSC Ensembl
chr5:78202213..78226063hg19UCSC Ensembl
Innerchr5:78202213..78226063hg19UCSC Ensembl
Outerchr5:78201713..78226563hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3823851
hg1923851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605518
Supporting Variants
SamplesHG01935
Known GenesARSB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11950694
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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