A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641237



Internal ID6681322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74241755..74451924hg38UCSC Ensembl
chr17:72237894..72448063hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38210170
hg19210170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15738901, essv15738898, essv15738900, essv15738899
SamplesNA12348, NA19451, NA06989, NA19309
Known GenesBTBD17, DNAI2, GPR142, GPRC5C, KIF19, TTYH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641237
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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