A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945088



Internal ID2885330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74519403..74522597hg38UCSC Ensembl
Innerchr5:74519419..74522581hg38UCSC Ensembl
Outerchr5:74519387..74522613hg38UCSC Ensembl
chr5:73815228..73818422hg19UCSC Ensembl
Innerchr5:73815244..73818406hg19UCSC Ensembl
Outerchr5:73815212..73818438hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383195
hg193195
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605429
Supporting Variants
SamplesHG02558
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945088
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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