A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499818



Internal ID2501634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109450093..109465041hg38UCSC Ensembl
chr6:109771296..109786244hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3814949
hg1914949
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610338
Supporting Variants
SamplesNA19197
Known GenesMICAL1, ZBTB24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499818
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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