A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11455206



Internal ID6609138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:61809175..61829670hg38UCSC Ensembl
Innerchr4:61809675..61829170hg38UCSC Ensembl
Outerchr4:61808175..61830670hg38UCSC Ensembl
chr4:62674893..62695388hg19UCSC Ensembl
Innerchr4:62675393..62694888hg19UCSC Ensembl
Outerchr4:62673893..62696388hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3820496
hg1920496
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600691
Supporting Variants
SamplesNA20774
Known GenesLPHN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11455206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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