A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437174



Internal ID15284127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100461106..100461123hg38UCSC Ensembl
Innerchr9:100461100..100461129hg38UCSC Ensembl
Outerchr9:100461083..100461146hg38UCSC Ensembl
chr9:103223388..103223405hg19UCSC Ensembl
Innerchr9:103223382..103223411hg19UCSC Ensembl
Outerchr9:103223365..103223428hg19UCSC Ensembl
chr9:102263209..102263226hg18UCSC Ensembl
Innerchr9:102263232..102263203hg18UCSC Ensembl
Outerchr9:102263186..102263249hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8945659, essv8945666, essv8945654, essv8945655, essv8945651, essv8945663, essv8945662, essv8945657, essv8945656, essv8945660, essv8945664, essv8945653, essv8945648, essv8945661, essv8945665, essv8945650, essv8945652, essv8945649
SamplesNA11829, NA18959, NA07357, NA18940, NA18550, NA18558, NA18547, NA18571, NA18951, NA18572, NA18948, NA19114, NA19099, NA18555, NA12043, NA12006, NA18562, NA18577
Known GenesMSANTD3-TMEFF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437174
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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