A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993621



Internal ID995437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44911009..44916266hg38UCSC Ensembl
chr3:44952501..44957758hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385258
hg195258
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596040
Supporting Variants
SamplesNA12272
Known GenesTGM4, ZDHHC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993621
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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