A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641294



Internal ID6681379
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv588e214
Supporting Variantsessv15744100
SamplesHG00421
Known GenesST6GALNAC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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