A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6224730



Internal ID9134322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174531358..174533909hg38UCSC Ensembl
chr2:175396086..175398637hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382552
hg192552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668682
Supporting Variants
SamplesHG01173
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6224730
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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