A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5914054



Internal ID9382350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2679367..3519614hg38UCSC Ensembl
chr17:2582661..3422908hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38840248
hg19840248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660206
Supporting Variants
SamplesNA18574
Known GenesASPA, CLUH, MIR1253, MIR6776, OR1A1, OR1A2, OR1D2, OR1D4, OR1D5, OR1E1, OR1E2, OR1G1, OR3A1, OR3A2, OR3A3, OR3A4P, PAFAH1B1, RAP1GAP2, SPATA22, TRPV3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5914054
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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