A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15744101



Internal ID2511637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76628559..76633128hg38UCSC Ensembl
chr17:74624641..74629210hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384570
hg194570
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641295
Supporting Variants
SamplesHG02231
Known GenesST6GALNAC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15744101
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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