A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337133



Internal ID15184121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150332623..150333721hg38UCSC Ensembl
Innerchr6:150332721..150333623hg38UCSC Ensembl
Outerchr6:150331623..150334721hg38UCSC Ensembl
chr6:150653759..150654857hg19UCSC Ensembl
Innerchr6:150653857..150654759hg19UCSC Ensembl
Outerchr6:150652759..150655857hg19UCSC Ensembl
chr6:150695452..150696550hg18UCSC Ensembl
Innerchr6:150696452..150695550hg18UCSC Ensembl
Outerchr6:150694452..150697550hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3676e59
Supporting Variantsessv8695051
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337133
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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