A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15604120



Internal ID5605936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7198042..7261345hg38UCSC Ensembl
chr17:7101361..7164664hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3863304
hg1963304
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639861
Supporting Variants
SamplesHG02489
Known GenesACADVL, CLDN7, CTDNEP1, DLG4, DVL2, ELP5, GABARAP, MIR324, PHF23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15604120
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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