A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600591



Internal ID6987633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56864762..56869967hg38UCSC Ensembl
Innerchr4:56864824..56869906hg38UCSC Ensembl
Outerchr4:56864701..56870029hg38UCSC Ensembl
chr4:57730928..57736133hg19UCSC Ensembl
Innerchr4:57730990..57736072hg19UCSC Ensembl
Outerchr4:57730867..57736195hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385206
hg195206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11441966, essv11441967, essv11441962, essv11441965, essv11441963, essv11441960, essv11441961, essv11441964
SamplesHG03548, NA19020, HG03069, HG01982, NA19317, NA18934, NA19037, NA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600591
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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