A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695174



Internal ID13644420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170738139..170745937hg38UCSC Ensembl
Innerchr6:170739139..170744937hg38UCSC Ensembl
Outerchr6:170737139..170745979hg38UCSC Ensembl
chr6:171047227..171055000hg19UCSC Ensembl
Innerchr6:171048227..171054025hg19UCSC Ensembl
Outerchr6:171046227..171055000hg19UCSC Ensembl
chr6:170889152..170896950hg18UCSC Ensembl
Innerchr6:170890152..170895950hg18UCSC Ensembl
Outerchr6:170888152..170897950hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg387799
hg197774
hg187799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3325682
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695174
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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