A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15666712



Internal ID2068410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37380801..37381898hg38UCSC Ensembl
Innerchr17:37380807..37381892hg38UCSC Ensembl
Outerchr17:37380795..37381904hg38UCSC Ensembl
chr17:35737739..35738836hg19UCSC Ensembl
Innerchr17:35737745..35738830hg19UCSC Ensembl
Outerchr17:35737733..35738842hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640489
Supporting Variants
SamplesHG01883
Known GenesACACA, C17orf78
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15666712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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