A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430946



Internal ID15277902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39784034..39823332hg38UCSC Ensembl
Innerchr9:39785034..39822332hg38UCSC Ensembl
Outerchr9:39783034..39824332hg38UCSC Ensembl
chr9:41929052..41968350hg19UCSC Ensembl
Innerchr9:41930052..41967350hg19UCSC Ensembl
Outerchr9:41928052..41969350hg19UCSC Ensembl
chr9:41919052..41958350hg18UCSC Ensembl
Innerchr9:41920052..41957350hg18UCSC Ensembl
Outerchr9:41918052..41959350hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3839299
hg1939299
hg1839299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696649
SamplesNA12878
Known GenesKGFLP2, MGC21881
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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