A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5581599



Internal ID9896166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:125860970..125867176hg38UCSC Ensembl
Outerchr6:125860599..125867546hg38UCSC Ensembl
Innerchr6:126182116..126188322hg19UCSC Ensembl
Outerchr6:126181745..126188692hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg386948
hg196948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670095
Supporting Variants
SamplesNA20783
Known GenesNCOA7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5581599
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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