A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585141



Internal ID6972665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8140647..8151196hg38UCSC Ensembl
chr1:8200707..8211256hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3810550
hg1910550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9847634, essv9847627, essv9847629, essv9847619, essv9847648, essv9847649, essv9847639, essv9847647, essv9847635, essv9847654, essv9847625, essv9847657, essv9847623, essv9847646, essv9847656, essv9847628, essv9847626, essv9847620, essv9847632, essv9847618, essv9847641, essv9847651, essv9847622, essv9847653, essv9847644, essv9847637, essv9847638, essv9847645, essv9847658, essv9847642, essv9847633, essv9847621, essv9847655, essv9847630, essv9847640, essv9847631, essv9847643, essv9847650, essv9847652, essv9847636, essv9847624
SamplesHG00096, HG00102, HG02337, HG01188, NA11931, HG00306, NA12004, HG00179, NA20507, NA18962, HG01325, NA20900, HG00330, HG00334, HG00185, HG00139, HG03826, HG01080, HG03888, HG00323, NA11831, NA10847, NA12760, HG00380, HG01384, HG01669, HG01612, HG00239, HG01102, NA11840, HG01680, HG01403, NA12778, HG01988, NA12043, HG00378, HG00267, NA21101, NA20510, NA12830, NA20502
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585141
Frequency
Sample Size2504
Observed Gain41
Observed Loss0
Observed Complex0
Frequencyn/a


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