A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592435



Internal ID6979762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130006472..130032161hg38UCSC Ensembl
Innerchr2:130006472..130032161hg38UCSC Ensembl
Outerchr2:130005972..130032661hg38UCSC Ensembl
chr2:130764045..130789734hg19UCSC Ensembl
Innerchr2:130764045..130789734hg19UCSC Ensembl
Outerchr2:130763545..130790234hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3825690
hg1925690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10670069, essv10670061, essv10670049, essv10670075, essv10670058, essv10670078, essv10670074, essv10670060, essv10670055, essv10670070, essv10670062, essv10670066, essv10670052, essv10670063, essv10670050, essv10670067, essv10670056, essv10670065, essv10670053, essv10670054, essv10670048, essv10670059, essv10670073, essv10670071, essv10670072, essv10670068, essv10670057, essv10670077, essv10670064, essv10670051, essv10670076
SamplesHG01986, HG03559, HG02318, HG03115, HG03518, NA20356, NA20287, HG02816, HG02922, HG02461, NA18908, HG02977, NA19437, HG02334, HG03085, HG02884, HG03354, HG03064, HG02813, HG02613, NA18909, HG02923, HG02314, NA19324, HG02970, HG02938, HG03410, NA19116, NA18488, HG02629, HG03271
Known GenesFAR2P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592435
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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