A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352688



Internal ID15199669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137408282..137408282hg38UCSC Ensembl
Innerchr9:137408281..137408283hg38UCSC Ensembl
Outerchr9:137408222..137408332hg38UCSC Ensembl
chr9:140302734..140302734hg19UCSC Ensembl
Innerchr9:140302733..140302735hg19UCSC Ensembl
Outerchr9:140302674..140302784hg19UCSC Ensembl
chr9:139422555..139422555hg18UCSC Ensembl
Innerchr9:139422556..139422554hg18UCSC Ensembl
Outerchr9:139422495..139422605hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8843587
SamplesNA12878
Known GenesEXD3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352688
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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