A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15744100



Internal ID5745916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76628559..76633128hg38UCSC Ensembl
chr17:74624641..74629210hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384570
hg194570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641294
Supporting Variants
SamplesHG00421
Known GenesST6GALNAC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15744100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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