A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11430700



Internal ID5447126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:51974783..51980768hg38UCSC Ensembl
Innerchr4:51974826..51980725hg38UCSC Ensembl
Outerchr4:51974740..51980811hg38UCSC Ensembl
chr4:52840949..52846934hg19UCSC Ensembl
Innerchr4:52840992..52846891hg19UCSC Ensembl
Outerchr4:52840906..52846977hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385986
hg195986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600486
Supporting Variants
SamplesNA18963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11430700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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