A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10061234



Internal ID63050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110483809..110485832hg38UCSC Ensembl
Innerchr1:110483809..110485832hg38UCSC Ensembl
Outerchr1:110483524..110486035hg38UCSC Ensembl
chr1:111026431..111028454hg19UCSC Ensembl
Innerchr1:111026431..111028454hg19UCSC Ensembl
Outerchr1:111026146..111028657hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382024
hg192024
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587166
Supporting Variants
SamplesHG02461
Known GenesCYMP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10061234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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