A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11913483



Internal ID3300785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57093784..57096242hg38UCSC Ensembl
Innerchr5:57093797..57096229hg38UCSC Ensembl
Outerchr5:57093771..57096255hg38UCSC Ensembl
chr5:56389611..56392069hg19UCSC Ensembl
Innerchr5:56389624..56392056hg19UCSC Ensembl
Outerchr5:56389598..56392082hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382459
hg192459
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605128
Supporting Variants
SamplesHG02943
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11913483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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