A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673247



Internal ID9592666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151982534..151990637hg38UCSC Ensembl
chr6:152303669..152311772hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg388104
hg198104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6411247, essv5656711, essv6138434, essv6586750
SamplesNA19395, NA19375, NA19376, NA18908
Known GenesESR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673247
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer