A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11944233



Internal ID1946049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73581458..73590180hg38UCSC Ensembl
Innerchr5:73581458..73590180hg38UCSC Ensembl
Outerchr5:73581383..73590258hg38UCSC Ensembl
chr5:72877283..72886005hg19UCSC Ensembl
Innerchr5:72877283..72886005hg19UCSC Ensembl
Outerchr5:72877208..72886083hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg388723
hg198723
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605417
Supporting Variants
SamplesHG01869
Known GenesUTP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11944233
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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