A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625111



Internal ID7011949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1421843..1440353hg38UCSC Ensembl
chr11:1443073..1461583hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3818511
hg1918511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13992644, essv13992642, essv13992668, essv13992665, essv13992662, essv13992640, essv13992641, essv13992651, essv13992667, essv13992646, essv13992634, essv13992637, essv13992658, essv13992633, essv13992639, essv13992638, essv13992659, essv13992671, essv13992663, essv13992647, essv13992650, essv13992664, essv13992666, essv13992656, essv13992643, essv13992657, essv13992655, essv13992670, essv13992635, essv13992632, essv13992645, essv13992636, essv13992653, essv13992649, essv13992654, essv13992661, essv13992660, essv13992669, essv13992652, essv13992648
SamplesNA18998, NA19028, NA18647, NA19914, NA19734, NA18979, NA18639, HG02277, HG00452, HG02285, NA12812, HG00355, NA21108, HG02278, NA19923, NA19041, NA21109, NA18748, NA21107, HG02138, HG02104, NA18640, NA21106, NA18525, HG02090, NA21119, NA19031, NA19625, HG01625, HG00376, HG00407, NA19308, NA21117, NA19149, NA19735, HG02139, HG00421, NA19096, HG01105, HG00437
Known GenesBRSK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625111
Frequency
Sample Size2504
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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