A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622505



Internal ID6662675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18381575..18382387hg38UCSC Ensembl
Innerchr10:18381687..18382314hg38UCSC Ensembl
Outerchr10:18381361..18382601hg38UCSC Ensembl
chr10:18670504..18671316hg19UCSC Ensembl
Innerchr10:18670616..18671243hg19UCSC Ensembl
Outerchr10:18670290..18671530hg19UCSC Ensembl
Cytoband10p12.32
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13710160, essv13710166, essv13710159, essv13710157, essv13710176, essv13710178, essv13710167, essv13710156, essv13710169, essv13710177, essv13710165, essv13710179, essv13710181, essv13710185, essv13710174, essv13710155, essv13710182, essv13710154, essv13710184, essv13710170, essv13710163, essv13710158, essv13710161, essv13710171, essv13710172, essv13710173, essv13710168, essv13710180, essv13710183, essv13710164, essv13710162, essv13710175
SamplesNA19913, NA19445, NA18523, HG03342, HG02896, NA19317, HG02722, HG02885, NA20362, HG02010, HG02817, HG02323, NA19117, NA19982, HG02968, HG02861, HG02757, HG02461, HG02429, HG02111, HG02479, HG02586, HG03352, NA19235, HG03446, HG01393, HG03061, HG03105, HG03343, NA18917, NA20359, NA19200
Known GenesCACNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622505
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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