A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696649



Internal ID13657793
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 Flag1
Merged StatusS
Merged Variantsesv3430946
Supporting Variants
SamplesNA12878
Known GenesKGFLP2, MGC21881
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696649
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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