A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10803834



Internal ID2543897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191313507..191333497hg38UCSC Ensembl
Innerchr2:191314007..191332997hg38UCSC Ensembl
Outerchr2:191312507..191334497hg38UCSC Ensembl
chr2:192178233..192198223hg19UCSC Ensembl
Innerchr2:192178733..192197723hg19UCSC Ensembl
Outerchr2:192177233..192199223hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3819991
hg1919991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593767
Supporting Variants
SamplesHG02259
Known GenesMYO1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10803834
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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