A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627527



Internal ID7014355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102432851..102436757hg38UCSC Ensembl
Innerchr11:102432852..102436757hg38UCSC Ensembl
Outerchr11:102432851..102436758hg38UCSC Ensembl
chr11:102303582..102307488hg19UCSC Ensembl
Innerchr11:102303583..102307488hg19UCSC Ensembl
Outerchr11:102303582..102307489hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg383907
hg193907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14253673, essv14253655, essv14253675, essv14253644, essv14253653, essv14253669, essv14253652, essv14253671, essv14253661, essv14253670, essv14253640, essv14253650, essv14253641, essv14253636, essv14253642, essv14253664, essv14253656, essv14253645, essv14253659, essv14253654, essv14253646, essv14253667, essv14253637, essv14253649, essv14253648, essv14253651, essv14253668, essv14253657, essv14253639, essv14253666, essv14253676, essv14253647, essv14253672, essv14253658, essv14253663, essv14253665, essv14253662, essv14253660, essv14253674, essv14253643, essv14253638
SamplesHG00114, NA19648, HG00231, NA12286, NA20508, HG00242, HG01348, HG00233, NA12004, NA20332, HG00097, NA12812, HG01167, HG01372, NA20541, HG00106, HG00262, HG00118, HG01121, HG00739, HG01183, HG00245, HG00275, NA12234, HG01948, NA19654, HG00321, HG00240, HG00126, HG01363, NA20799, NA11881, HG03702, HG01577, HG02147, HG01935, NA20334, HG01085, HG00123, NA12006, HG01191
Known GenesTMEM123
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627527
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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