A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622507



Internal ID6662677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18458048..18472074hg38UCSC Ensembl
chr10:18746977..18761003hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3814027
hg1914027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13710206, essv13710213, essv13710216, essv13710200, essv13710204, essv13710208, essv13710207, essv13710195, essv13710217, essv13710198, essv13710196, essv13710190, essv13710189, essv13710192, essv13710193, essv13710191, essv13710214, essv13710201, essv13710218, essv13710205, essv13710219, essv13710202, essv13710210, essv13710209, essv13710212, essv13710215, essv13710199, essv13710197, essv13710203, essv13710194, essv13710211
SamplesNA19445, NA18523, HG03563, HG02896, HG02006, HG02887, HG02010, NA19117, HG03088, NA19982, NA19390, HG02968, HG03241, HG03565, HG01247, NA19024, NA18498, HG02461, HG02429, HG02111, HG02479, HG03446, HG01393, NA19025, HG03074, NA18917, NA19198, NA19315, NA19346, NA19350, NA19200
Known GenesCACNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622507
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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