A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585263



Internal ID6972788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13557837..13575960hg38UCSC Ensembl
Innerchr1:13558337..13575460hg38UCSC Ensembl
Outerchr1:13556837..13576960hg38UCSC Ensembl
chr1:13884332..13902455hg19UCSC Ensembl
Innerchr1:13884832..13901955hg19UCSC Ensembl
Outerchr1:13883332..13903455hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3818124
hg1918124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9860269, essv9860252, essv9860280, essv9860263, essv9860253, essv9860273, essv9860256, essv9860250, essv9860262, essv9860276, essv9860274, essv9860267, essv9860265, essv9860261, essv9860272, essv9860251, essv9860281, essv9860271, essv9860268, essv9860277, essv9860258, essv9860275, essv9860270, essv9860266, essv9860257, essv9860259, essv9860254, essv9860264, essv9860279, essv9860278, essv9860249, essv9860260, essv9860255
SamplesHG03812, HG03960, HG03015, HG04076, HG03941, HG03706, HG03234, HG04070, HG03978, HG03629, HG04183, HG03826, HG03947, HG02780, HG03780, HG04146, HG02697, HG03756, HG03643, HG03745, HG03755, HG03934, NA21113, HG02790, HG04099, NA21088, HG03646, HG03684, HG04098, HG04153, NA21120, HG03989, HG03864
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585263
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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