A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15610228



Internal ID3618067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9275608..9278185hg38UCSC Ensembl
Innerchr17:9275610..9278183hg38UCSC Ensembl
Outerchr17:9275606..9278187hg38UCSC Ensembl
chr17:9178925..9181502hg19UCSC Ensembl
Innerchr17:9178927..9181500hg19UCSC Ensembl
Outerchr17:9178923..9181504hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382578
hg192578
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639897
Supporting Variants
SamplesHG03209
Known GenesSTX8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15610228
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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