A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623075



Internal ID6663243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44915494..44919000hg38UCSC Ensembl
chr10:45410942..45414448hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg383507
hg193507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13765126, essv13765129, essv13765132, essv13765133, essv13765124, essv13765130, essv13765128, essv13765125, essv13765131, essv13765127
SamplesNA19209, HG03112, HG03133, HG02010, HG03378, NA19654, HG01694, NA19042, NA19027, HG02610
Known GenesTMEM72, TMEM72-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623075
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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