A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451801



Internal ID15298746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96655444..96655458hg38UCSC Ensembl
Innerchr7:96655446..96655456hg38UCSC Ensembl
Outerchr7:96655442..96655460hg38UCSC Ensembl
chr7:96284756..96284770hg19UCSC Ensembl
Innerchr7:96284758..96284768hg19UCSC Ensembl
Outerchr7:96284754..96284772hg19UCSC Ensembl
chr7:96122692..96122706hg18UCSC Ensembl
Innerchr7:96122694..96122704hg18UCSC Ensembl
Outerchr7:96122690..96122708hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864747
SamplesNA12005
Known GenesLOC100506136
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451801
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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