A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15738901



Internal ID5740717
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641237
Supporting Variants
SamplesNA19451
Known GenesBTBD17, DNAI2, GPR142, GPRC5C, KIF19, TTYH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15738901
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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