A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15617703



Internal ID4363271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13972715..13989648hg38UCSC Ensembl
Innerchr17:13973215..13989148hg38UCSC Ensembl
Outerchr17:13971715..13990648hg38UCSC Ensembl
chr17:13876032..13892965hg19UCSC Ensembl
Innerchr17:13876532..13892465hg19UCSC Ensembl
Outerchr17:13875032..13893965hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3816934
hg1916934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640007
Supporting Variants
SamplesHG03896
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15617703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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