A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12358423



Internal ID5098508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54052152..54121300hg38UCSC Ensembl
chr6:53916950..53986098hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3869149
hg1969149
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609040
Supporting Variants
SamplesNA18552
Known GenesMLIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12358423
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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