A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15570209



Internal ID2131907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:307633..357098hg38UCSC Ensembl
chr17:157424..206889hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3849466
hg1949466
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639617
Supporting Variants
SamplesHG01935
Known GenesLOC100506388, RPH3AL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15570209
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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