A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11820687



Internal ID2200849
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604136
Supporting Variants
SamplesHG01982
Known GenesMYO10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11820687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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