A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15610842



Internal ID6475397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10407756..10409784hg38UCSC Ensembl
Innerchr17:10407806..10409734hg38UCSC Ensembl
Outerchr17:10407654..10409886hg38UCSC Ensembl
chr17:10311073..10313101hg19UCSC Ensembl
Innerchr17:10311123..10313051hg19UCSC Ensembl
Outerchr17:10310971..10313203hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382029
hg192029
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639935
Supporting Variants
SamplesNA20522
Known GenesMYH8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15610842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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