A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585227



Internal ID6972751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11928542..11933310hg38UCSC Ensembl
Innerchr1:11928554..11933298hg38UCSC Ensembl
Outerchr1:11928530..11933322hg38UCSC Ensembl
chr1:11988599..11993367hg19UCSC Ensembl
Innerchr1:11988611..11993355hg19UCSC Ensembl
Outerchr1:11988587..11993379hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384769
hg194769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9855898, essv9855882, essv9855921, essv9855894, essv9855919, essv9855902, essv9855883, essv9855910, essv9855922, essv9855893, essv9855912, essv9855914, essv9855913, essv9855885, essv9855892, essv9855917, essv9855887, essv9855888, essv9855886, essv9855895, essv9855897, essv9855916, essv9855911, essv9855920, essv9855905, essv9855881, essv9855901, essv9855889, essv9855891, essv9855915, essv9855884, essv9855900, essv9855906, essv9855890, essv9855918, essv9855904, essv9855909, essv9855896, essv9855899, essv9855908, essv9855903, essv9855907
SamplesNA12414, HG04229, NA20878, HG01806, HG02050, HG02023, NA19076, HG02140, NA18582, HG00590, HG00683, HG02597, HG01813, HG02389, HG02187, NA18990, HG00419, HG00560, HG03785, NA19082, HG02731, HG00320, NA18948, HG04054, HG02601, HG04176, NA18593, HG02455, NA18952, NA18559, HG00565, NA19072, NA19090, HG01866, HG00662, HG00329, NA18994, NA18636, HG01872, HG00759, HG00180, NA18620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585227
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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