A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673250



Internal ID9939355
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6253059, essv6119068, essv5583968, essv5585780
SamplesNA19664, HG01365, HG01067, HG00734
Known GenesMYH4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673250
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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