A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15609363



Internal ID5611179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8808327..8810678hg38UCSC Ensembl
Innerchr17:8808328..8810678hg38UCSC Ensembl
Outerchr17:8808327..8810679hg38UCSC Ensembl
chr17:8711645..8713996hg19UCSC Ensembl
Innerchr17:8711646..8713996hg19UCSC Ensembl
Outerchr17:8711645..8713997hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382352
hg192352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639893
Supporting Variants
SamplesNA18525
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15609363
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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