A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809044



Internal ID13647903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38110098..38110254hg38UCSC Ensembl
Innerchr22:38110097..38110255hg38UCSC Ensembl
Outerchr22:38109988..38110374hg38UCSC Ensembl
chr22:38506105..38506261hg19UCSC Ensembl
Innerchr22:38506104..38506262hg19UCSC Ensembl
Outerchr22:38505995..38506381hg19UCSC Ensembl
chr22:36836051..36836207hg18UCSC Ensembl
Innerchr22:36836208..36836050hg18UCSC Ensembl
Outerchr22:36835941..36836327hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38157
hg19157
hg18157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345707
Supporting Variants
SamplesNA12878
Known GenesBAIAP2L2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809044
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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