A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15604125



Internal ID6188528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7284932..7285340hg38UCSC Ensembl
Innerchr17:7284947..7285325hg38UCSC Ensembl
Outerchr17:7284917..7285355hg38UCSC Ensembl
chr17:7188251..7188659hg19UCSC Ensembl
Innerchr17:7188266..7188644hg19UCSC Ensembl
Outerchr17:7188236..7188674hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639864
Supporting Variants
SamplesNA19720
Known GenesSLC2A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15604125
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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