A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6536556



Internal ID9664207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241078122..241078851hg38UCSC Ensembl
chr2:242017537..242018266hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659634
Supporting Variants
SamplesNA19395
Known GenesSNED1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6536556
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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