A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10447743



Internal ID449559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32754098..32898270hg38UCSC Ensembl
chr2:32979165..33123337hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38144173
hg19144173
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590263
Supporting Variants
SamplesNA20342
Known GenesLINC00486, TTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10447743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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