A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696026



Internal ID13703808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70495530..70497028hg38UCSC Ensembl
Innerchr7:70496028..70496530hg38UCSC Ensembl
Outerchr7:70494530..70498028hg38UCSC Ensembl
chr7:69960516..69962014hg19UCSC Ensembl
Innerchr7:69961014..69961516hg19UCSC Ensembl
Outerchr7:69959516..69963014hg19UCSC Ensembl
chr7:69598452..69599950hg18UCSC Ensembl
Innerchr7:69599452..69598950hg18UCSC Ensembl
Outerchr7:69597452..69600950hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352638
Supporting Variants
SamplesNA12891
Known GenesAUTS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696026
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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