A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11942998



Internal ID5353227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71931467..71934331hg38UCSC Ensembl
Innerchr5:71931504..71934295hg38UCSC Ensembl
Outerchr5:71931431..71934368hg38UCSC Ensembl
chr5:71227294..71230158hg19UCSC Ensembl
Innerchr5:71227331..71230122hg19UCSC Ensembl
Outerchr5:71227258..71230195hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382865
hg192865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605398
Supporting Variants
SamplesNA18881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11942998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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