A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608530



Internal ID6648767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31139843..31176217hg38UCSC Ensembl
chr6:31107620..31143994hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3836375
hg1936375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1174e214
Supporting Variantsessv12253933, essv12253934
SamplesHG01880, HG01915
Known GenesCCHCR1, POU5F1, PSORS1C1, PSORS1C3, TCF19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608530
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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