A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584996



Internal ID6972521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1457002..1488053hg38UCSC Ensembl
Innerchr1:1457502..1487553hg38UCSC Ensembl
Outerchr1:1456002..1489053hg38UCSC Ensembl
chr1:1392382..1423433hg19UCSC Ensembl
Innerchr1:1392882..1422933hg19UCSC Ensembl
Outerchr1:1391382..1424433hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3831052
hg1931052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1e214
Supporting Variantsessv9840709, essv9840707, essv9840720, essv9840718, essv9840692, essv9840705, essv9840716, essv9840712, essv9840717, essv9840703, essv9840706, essv9840722, essv9840702, essv9840691, essv9840685, essv9840696, essv9840690, essv9840700, essv9840699, essv9840715, essv9840686, essv9840714, essv9840693, essv9840701, essv9840710, essv9840688, essv9840694, essv9840684, essv9840695, essv9840721, essv9840697, essv9840689, essv9840711, essv9840698, essv9840708, essv9840687, essv9840723, essv9840713, essv9840704, essv9840719
SamplesHG00536, NA19794, HG02648, NA11920, HG01280, NA18486, HG03298, HG01694, HG03464, NA19171, HG00109, HG04182, NA11918, HG03234, NA21108, NA20910, HG04214, HG00232, HG03693, NA19189, HG03844, HG00268, NA18516, HG01607, HG01842, HG02725, NA12778, NA12546, NA19308, NA20870, NA12046, HG02232, HG03433, HG03097, HG01556, HG01085, HG01631, HG02465, HG01509, HG03265
Known GenesATAD3B, ATAD3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584996
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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