A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5557597



Internal ID8535000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107883507..108500390hg38UCSC Ensembl
chr2:108499963..109116846hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38616884
hg19616884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672012
Supporting Variants
SamplesNA19012
Known GenesGCC2, RGPD4, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5557597
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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