A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327033



Internal ID15174018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:256452..383750hg38UCSC Ensembl
Innerchr6:257452..382750hg38UCSC Ensembl
Outerchr6:255452..384750hg38UCSC Ensembl
chr6:256452..383750hg19UCSC Ensembl
Innerchr6:257452..382750hg19UCSC Ensembl
Outerchr6:255452..384750hg19UCSC Ensembl
chr6:201452..328750hg18UCSC Ensembl
Innerchr6:202452..327750hg18UCSC Ensembl
Outerchr6:200452..329750hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38127299
hg19127299
hg18127299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3438e59
Supporting Variantsessv8695184
SamplesNA19239
Known GenesDUSP22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327033
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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