A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6065148



Internal ID9042551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209540495..209541635hg38UCSC Ensembl
chr2:210405219..210406359hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678028
Supporting Variants
SamplesNA18870
Known GenesMAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6065148
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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