A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6258760



Internal ID9236163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28985250..28989701hg38UCSC Ensembl
Outerchr2:28985093..28989854hg38UCSC Ensembl
Innerchr2:29208116..29212567hg19UCSC Ensembl
Outerchr2:29207959..29212720hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384762
hg194762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658167
Supporting Variants
SamplesNA19663
Known GenesFAM179A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6258760
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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