A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5815441



Internal ID9674575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11254617..11260170hg38UCSC Ensembl
chr2:11394743..11400296hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385554
hg195554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658593
Supporting Variants
SamplesNA19404
Known GenesROCK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5815441
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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