A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11310398



Internal ID2738500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197665072..197724412hg38UCSC Ensembl
chr3:197391943..197451283hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3859341
hg1959341
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599318
Supporting Variants
SamplesHG02407
Known GenesKIAA0226, MIR922
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11310398
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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