A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695052



Internal ID15050387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150332623..150333821hg38UCSC Ensembl
Innerchr6:150332821..150333623hg38UCSC Ensembl
Outerchr6:150331623..150334821hg38UCSC Ensembl
chr6:150653759..150654957hg19UCSC Ensembl
Innerchr6:150653957..150654759hg19UCSC Ensembl
Outerchr6:150652759..150655957hg19UCSC Ensembl
chr6:150695452..150696650hg18UCSC Ensembl
Innerchr6:150696452..150695650hg18UCSC Ensembl
Outerchr6:150694452..150697650hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410509
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695052
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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