A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589560



Internal ID6629849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248593440..248634296hg38UCSC Ensembl
chr1:248756741..248797597hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3840857
hg1940857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10379097, essv10379094, essv10379080, essv10379086, essv10379085, essv10379083, essv10379076, essv10379098, essv10379089, essv10379099, essv10379081, essv10379090, essv10379096, essv10379075, essv10379092, essv10379088, essv10379095, essv10379087, essv10379082, essv10379091, essv10379077, essv10379079, essv10379093, essv10379078, essv10379084
SamplesHG00189, NA19703, HG02298, HG01885, NA19399, HG03455, NA19377, NA18870, HG03464, HG03556, HG03120, HG01248, HG03428, HG02887, HG03476, HG01383, HG02722, HG03028, NA19834, HG02839, NA19818, NA19376, NA19117, HG02974, NA19463
Known GenesOR2T10, OR2T11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589560
Frequency
Sample Size2504
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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