A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12949247



Internal ID6286061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123815086..123834983hg38UCSC Ensembl
chr7:123455140..123475037hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3819898
hg1919898
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614860
Supporting Variants
SamplesNA19819
Known GenesHYALP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12949247
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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