A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13063503



Internal ID1077568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2021641..2061413hg38UCSC Ensembl
Innerchr8:2021641..2061413hg38UCSC Ensembl
Outerchr8:2021141..2061913hg38UCSC Ensembl
chr8:1969802..2009533hg19UCSC Ensembl
Innerchr8:1969802..2009533hg19UCSC Ensembl
Outerchr8:1969302..2010033hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3839773
hg1939732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615852
Supporting Variants
SamplesHG00701
Known GenesMYOM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13063503
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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