A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604136



Internal ID6991166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16785248..16786143hg38UCSC Ensembl
Innerchr5:16785298..16786093hg38UCSC Ensembl
Outerchr5:16785186..16786205hg38UCSC Ensembl
chr5:16785357..16786252hg19UCSC Ensembl
Innerchr5:16785407..16786202hg19UCSC Ensembl
Outerchr5:16785295..16786314hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11820687, essv11820686
SamplesHG01982, HG01939
Known GenesMYO10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604136
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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