A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10160884



Internal ID162700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158843989..158853460hg38UCSC Ensembl
Innerchr1:158843989..158853460hg38UCSC Ensembl
Outerchr1:158843761..158853655hg38UCSC Ensembl
chr1:158813779..158823250hg19UCSC Ensembl
Innerchr1:158813779..158823250hg19UCSC Ensembl
Outerchr1:158813551..158823445hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg389472
hg199472
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587685
Supporting Variants
SamplesHG01125
Known GenesMNDA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10160884
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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