A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12834332



Internal ID2836148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71778998..71802508hg38UCSC Ensembl
chr7:71243983..71267493hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3823511
hg1923511
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613640
Supporting Variants
SamplesHG02489
Known GenesCALN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12834332
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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