A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623068



Internal ID6663236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44713185..44864432hg38UCSC Ensembl
Innerchr10:44713335..44864282hg38UCSC Ensembl
Outerchr10:44713035..44864582hg38UCSC Ensembl
chr10:45208633..45359880hg19UCSC Ensembl
Innerchr10:45208783..45359730hg19UCSC Ensembl
Outerchr10:45208483..45360030hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38151248
hg19151248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13765034, essv13765033, essv13765030, essv13765046, essv13765029, essv13765031, essv13765039, essv13765040, essv13765035, essv13765024, essv13765043, essv13765042, essv13765032, essv13765044, essv13765022, essv13765023, essv13765036, essv13765045, essv13765037, essv13765028, essv13765038, essv13765025, essv13765026, essv13765021, essv13765041, essv13765027
SamplesHG00257, HG01777, HG01624, HG01704, HG01606, HG00122, HG01131, HG01680, HG01461, HG01384, HG01456, HG01061, HG01785, HG00097, NA19725, HG00108, HG01121, HG01073, HG01070, HG01447, HG01767, HG00120, HG02238, NA20513, HG01366, HG01177
Known GenesTMEM72-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623068
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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