A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6095323



Internal ID9072726
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 Flag1
Merged StatusS
Merged Variantsesv2667897
Supporting Variants
SamplesNA20507
Known GenesCMPK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6095323
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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