A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658550



Internal ID9924655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179516809..179517534hg38UCSC Ensembl
chr2:180381536..180382261hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6491876, essv5430536, essv6497858, essv5768496, essv5436574, essv5561337, essv6161629, essv5917629
SamplesHG00156, HG00323, HG00137, HG00176, HG00273, NA19685, NA11843, NA19661
Known GenesZNF385B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658550
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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