A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11948247



Internal ID3740062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77543208..77548061hg38UCSC Ensembl
chr5:76839033..76843886hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384854
hg194854
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605488
Supporting Variants
SamplesHG03370
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11948247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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