A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667897



Internal ID9934002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6833043..6845996hg38UCSC Ensembl
chr2:6973174..6986127hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3812954
hg1912954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6453143, essv6095323
SamplesNA20507, HG00310
Known GenesCMPK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667897
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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