A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864100



Internal ID12969880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223792957..223792973hg38UCSC Ensembl
Innerchr2:223792929..223793001hg38UCSC Ensembl
Outerchr2:223792913..223793017hg38UCSC Ensembl
chr2:224657674..224657690hg19UCSC Ensembl
Innerchr2:224657646..224657718hg19UCSC Ensembl
Outerchr2:224657630..224657734hg19UCSC Ensembl
chr2:224365918..224365934hg18UCSC Ensembl
Innerchr2:224365962..224365890hg18UCSC Ensembl
Outerchr2:224365874..224365978hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334220
Supporting Variants
SamplesNA12005
Known GenesAP1S3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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