A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10879731



Internal ID881547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233740390..233751659hg38UCSC Ensembl
chr2:234649036..234660305hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811270
hg1911270
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594680
Supporting Variants
SamplesHG02944
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10879731
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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