A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326024



Internal ID14826304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128298063..128298082hg38UCSC Ensembl
Innerchr2:128298059..128298086hg38UCSC Ensembl
Outerchr2:128298040..128298105hg38UCSC Ensembl
chr2:129055637..129055656hg19UCSC Ensembl
Innerchr2:129055633..129055660hg19UCSC Ensembl
Outerchr2:129055614..129055679hg19UCSC Ensembl
chr2:128772107..128772126hg18UCSC Ensembl
Innerchr2:128772130..128772103hg18UCSC Ensembl
Outerchr2:128772084..128772149hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9603957
SamplesNA07347
Known GenesHS6ST1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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