A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12253933



Internal ID2255749
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608530
Supporting Variants
SamplesHG01880
Known GenesCCHCR1, POU5F1, PSORS1C1, PSORS1C3, TCF19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12253933
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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