A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691765



Internal ID13709436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120011906..120065613hg38UCSC Ensembl
Innerchr1:120012906..120064613hg38UCSC Ensembl
Outerchr1:120010906..120066613hg38UCSC Ensembl
chr1:120554529..120608227hg19UCSC Ensembl
Innerchr1:120555529..120607227hg19UCSC Ensembl
Outerchr1:120553529..120609227hg19UCSC Ensembl
chr1:120356052..120409750hg18UCSC Ensembl
Innerchr1:120357052..120408750hg18UCSC Ensembl
Outerchr1:120355052..120410750hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3853708
hg1953699
hg1853699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3324912
Supporting Variants
SamplesNA12891
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691765
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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