A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589226



Internal ID6976554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236955392..236969882hg38UCSC Ensembl
chr1:237118692..237133182hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3814491
hg1914491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10338696, essv10338704, essv10338694, essv10338699, essv10338698, essv10338705, essv10338693, essv10338690, essv10338692, essv10338697, essv10338695, essv10338700, essv10338701, essv10338691, essv10338706, essv10338702, essv10338703
SamplesNA19394, HG03241, HG03115, NA18504, HG03372, HG03246, NA18520, HG02442, HG03120, NA18934, NA19184, HG03294, NA18912, HG02923, HG02314, NA18865, NA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589226
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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