A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585871



Internal ID6973391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43631969..43641779hg38UCSC Ensembl
chr1:44097640..44107450hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389811
hg199811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9924017, essv9924019, essv9924011, essv9924005, essv9924015, essv9924016, essv9924007, essv9924024, essv9924006, essv9924002, essv9924018, essv9924020, essv9924012, essv9924021, essv9924014, essv9924003, essv9924022, essv9923999, essv9924008, essv9924013, essv9924001, essv9924023, essv9924000, essv9924010, essv9924009, essv9924004
SamplesHG03366, NA19222, HG03111, NA18486, NA19393, HG03139, HG03370, NA19917, HG02588, NA18520, HG03270, HG02009, HG02943, HG03120, NA18933, HG03575, HG03472, NA18853, NA19401, HG02330, NA19439, NA19467, NA19323, NA19096, NA18505, HG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585871
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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