A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8955158



Internal ID14554618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131491416..131491446hg38UCSC Ensembl
Innerchr11:131491428..131491432hg38UCSC Ensembl
Outerchr11:131491398..131491464hg38UCSC Ensembl
chr11:131361310..131361340hg19UCSC Ensembl
Innerchr11:131361322..131361326hg19UCSC Ensembl
Outerchr11:131361292..131361358hg19UCSC Ensembl
chr11:130866520..130866550hg18UCSC Ensembl
Innerchr11:130866536..130866532hg18UCSC Ensembl
Outerchr11:130866502..130866568hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3407733
Supporting Variants
SamplesNA19138
Known GenesNTM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8955158
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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