A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584995



Internal ID6972520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1453573..1475416hg38UCSC Ensembl
Innerchr1:1454073..1474916hg38UCSC Ensembl
Outerchr1:1452573..1476416hg38UCSC Ensembl
chr1:1388953..1410796hg19UCSC Ensembl
Innerchr1:1389453..1410296hg19UCSC Ensembl
Outerchr1:1387953..1411796hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3821844
hg1921844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9840678, essv9840682, essv9840669, essv9840677, essv9840647, essv9840664, essv9840672, essv9840671, essv9840681, essv9840643, essv9840651, essv9840676, essv9840654, essv9840646, essv9840675, essv9840660, essv9840645, essv9840674, essv9840670, essv9840667, essv9840680, essv9840659, essv9840668, essv9840656, essv9840653, essv9840662, essv9840666, essv9840644, essv9840655, essv9840683, essv9840658, essv9840665, essv9840648, essv9840663, essv9840649, essv9840673, essv9840657, essv9840661, essv9840652, essv9840679, essv9840650
SamplesHG00536, NA19794, HG02648, NA11920, HG01280, NA18486, HG03298, HG01694, HG03464, NA19171, HG00109, HG04182, NA11918, HG03234, NA21108, NA20910, HG04214, HG02561, 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)esv3584995
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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