A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11648501



Internal ID1650317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148088251..148106596hg38UCSC Ensembl
Innerchr4:148088251..148106596hg38UCSC Ensembl
Outerchr4:148087751..148107096hg38UCSC Ensembl
chr4:149009402..149027747hg19UCSC Ensembl
Innerchr4:149009402..149027747hg19UCSC Ensembl
Outerchr4:149008902..149028247hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3818346
hg1918346
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602614
Supporting Variants
SamplesNA20510
Known GenesNR3C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11648501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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