A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15614704



Internal ID1038294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13185967..13195287hg38UCSC Ensembl
Innerchr17:13185967..13195287hg38UCSC Ensembl
Outerchr17:13185693..13195583hg38UCSC Ensembl
chr17:13089284..13098604hg19UCSC Ensembl
Innerchr17:13089284..13098604hg19UCSC Ensembl
Outerchr17:13089010..13098900hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg389321
hg199321
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639987
Supporting Variants
SamplesHG00656
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15614704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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