A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12983083



Internal ID6130069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140329534..140362654hg38UCSC Ensembl
chr7:140029334..140062454hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3833121
hg1933121
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615228
Supporting Variants
SamplesNA19663
Known GenesSLC37A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12983083
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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