A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11125375



Internal ID1127191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123957366..124016673hg38UCSC Ensembl
chr3:123676213..123735520hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3859308
hg1959308
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597635
Supporting Variants
SamplesHG01970
Known GenesCCDC14, ROPN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11125375
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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