A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12770042



Internal ID1050192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51335899..51353309hg38UCSC Ensembl
chr7:51403596..51421006hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3817411
hg1917411
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613136
Supporting Variants
SamplesHG00672
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12770042
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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