A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5585780



Internal ID9067320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10444006..10453871hg38UCSC Ensembl
Outerchr17:10443849..10454024hg38UCSC Ensembl
Innerchr17:10347323..10357188hg19UCSC Ensembl
Outerchr17:10347166..10357341hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3810176
hg1910176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673250
Supporting Variants
SamplesHG00734
Known GenesMYH4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5585780
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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