A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426938



Internal ID15273895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:256452..382550hg38UCSC Ensembl
Innerchr6:257452..381550hg38UCSC Ensembl
Outerchr6:255452..383550hg38UCSC Ensembl
chr6:256452..382550hg19UCSC Ensembl
Innerchr6:257452..381550hg19UCSC Ensembl
Outerchr6:255452..383550hg19UCSC Ensembl
chr6:201452..327550hg18UCSC Ensembl
Innerchr6:202452..326550hg18UCSC Ensembl
Outerchr6:200452..328550hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38126099
hg19126099
hg18126099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3438e59
Supporting Variantsessv8695181
SamplesNA12878
Known GenesDUSP22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426938
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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