A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15720714



Internal ID2850178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63278424..63283897hg38UCSC Ensembl
chr17:61355785..61361258hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg385474
hg195474
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640986
Supporting Variants
SamplesHG02513
Known GenesTANC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15720714
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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