A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11653091



Internal ID1654907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150772319..150776379hg38UCSC Ensembl
Innerchr4:150772319..150776379hg38UCSC Ensembl
Outerchr4:150772127..150776607hg38UCSC Ensembl
chr4:151693471..151697531hg19UCSC Ensembl
Innerchr4:151693471..151697531hg19UCSC Ensembl
Outerchr4:151693279..151697759hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg384061
hg194061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602662
Supporting Variants
SamplesNA20126
Known GenesLRBA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11653091
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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