A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15944747



Internal ID2532167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77131325..77227392hg38UCSC Ensembl
chr18:74843281..74939348hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3896068
hg1996068
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643206
Supporting Variants
SamplesHG02252
Known GenesMBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15944747
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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