A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10318795



Internal ID2753579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231184125..231186232hg38UCSC Ensembl
Innerchr1:231184131..231186227hg38UCSC Ensembl
Outerchr1:231184120..231186238hg38UCSC Ensembl
chr1:231319871..231321978hg19UCSC Ensembl
Innerchr1:231319877..231321973hg19UCSC Ensembl
Outerchr1:231319866..231321984hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382108
hg192108
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589108
Supporting Variants
SamplesHG02420
Known GenesLOC149373, TRIM67
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10318795
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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