A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11637683



Internal ID5028928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143826948..144057673hg38UCSC Ensembl
Innerchr4:143826998..144057623hg38UCSC Ensembl
Outerchr4:143826898..144057723hg38UCSC Ensembl
chr4:144748101..144978826hg19UCSC Ensembl
Innerchr4:144748151..144978776hg19UCSC Ensembl
Outerchr4:144748051..144978876hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38230726
hg19230726
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602516
Supporting Variants
SamplesNA18519
Known GenesGYPB, GYPE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11637683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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