A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15744099



Internal ID5745915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76627849..76633273hg38UCSC Ensembl
Innerchr17:76627849..76633273hg38UCSC Ensembl
Outerchr17:76627588..76633530hg38UCSC Ensembl
chr17:74623931..74629355hg19UCSC Ensembl
Innerchr17:74623931..74629355hg19UCSC Ensembl
Outerchr17:74623670..74629612hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385425
hg195425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641293
Supporting Variants
SamplesHG00421
Known GenesST6GALNAC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15744099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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