A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12995046



Internal ID2996862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143926544..143960560hg38UCSC Ensembl
chr7:143623637..143657653hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3834017
hg1934017
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615313
Supporting Variants
SamplesHG03894
Known GenesOR2F1, OR2F2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12995046
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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