A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6096066



Internal ID9073469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100986938..100992811hg38UCSC Ensembl
Outerchr1:100986901..100992861hg38UCSC Ensembl
Innerchr1:101452494..101458367hg19UCSC Ensembl
Outerchr1:101452457..101458417hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385961
hg195961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668878
Supporting Variants
SamplesNA18597
Known GenesDPH5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6096066
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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