A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15570158



Internal ID2131799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:177867..302096hg38UCSC Ensembl
chr17:27658..151887hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38124230
hg19124230
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639615
Supporting Variants
SamplesHG01935
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15570158
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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