A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608121



Internal ID6648360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13118751..13119866hg38UCSC Ensembl
Innerchr6:13118751..13119866hg38UCSC Ensembl
Outerchr6:13118554..13120047hg38UCSC Ensembl
chr6:13118983..13120098hg19UCSC Ensembl
Innerchr6:13118983..13120098hg19UCSC Ensembl
Outerchr6:13118786..13120279hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12190063
SamplesHG01101
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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