A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945143



Internal ID2808660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74886451..74891238hg38UCSC Ensembl
Innerchr5:74886601..74891088hg38UCSC Ensembl
Outerchr5:74886301..74891388hg38UCSC Ensembl
chr5:74182276..74187063hg19UCSC Ensembl
Innerchr5:74182426..74186913hg19UCSC Ensembl
Outerchr5:74182126..74187213hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384788
hg194788
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605437
Supporting Variants
SamplesHG02481
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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