A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599890



Internal ID6986935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22045876..22070462hg38UCSC Ensembl
Innerchr4:22046376..22069962hg38UCSC Ensembl
Outerchr4:22044876..22071462hg38UCSC Ensembl
chr4:22047499..22072085hg19UCSC Ensembl
Innerchr4:22047999..22071585hg19UCSC Ensembl
Outerchr4:22046499..22073085hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3824587
hg1924587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv994e214
Supporting Variantsessv11369846, essv11369847, essv11369843, essv11369844, essv11369850, essv11369848, essv11369845, essv11369849
SamplesHG01521, NA20891, NA12400, NA07357, NA20900, NA19771, NA19720, HG00269
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599890
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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