A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589327



Internal ID6976655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240932955..240934043hg38UCSC Ensembl
Innerchr1:240933005..240933994hg38UCSC Ensembl
Outerchr1:240932906..240934093hg38UCSC Ensembl
chr1:241096255..241097343hg19UCSC Ensembl
Innerchr1:241096305..241097294hg19UCSC Ensembl
Outerchr1:241096206..241097393hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10353239, essv10353227, essv10353235, essv10353228, essv10353211, essv10353233, essv10353216, essv10353234, essv10353219, essv10353232, essv10353229, essv10353223, essv10353226, essv10353218, essv10353217, essv10353215, essv10353238, essv10353221, essv10353236, essv10353212, essv10353213, essv10353237, essv10353220, essv10353225, essv10353230, essv10353231, essv10353210, essv10353224, essv10353209, essv10353222, essv10353214, essv10353208, essv10353240
SamplesHG02652, NA20853, HG00257, HG01518, HG01500, HG01341, HG01325, HG00379, HG03595, HG04106, HG01058, NA21122, HG03007, HG02253, HG01088, HG01498, HG00263, HG01607, NA20538, HG01791, HG00157, HG01680, HG01936, HG02682, NA21094, HG01935, HG03716, NA20758, NA19780, HG01191, HG01618, HG01747, HG01608
Known GenesRGS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589327
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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