A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12976539



Internal ID1984679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:136097697..136111227hg38UCSC Ensembl
chr7:135782445..135795975hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3813531
hg1913531
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615140
Supporting Variants
SamplesHG01845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12976539
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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