A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15571332



Internal ID2132078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:370897..446617hg38UCSC Ensembl
chr17:220688..296408hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3875721
hg1975721
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639624
Supporting Variants
SamplesHG01935
Known GenesC17orf97, FAM101B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15571332
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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