A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307872



Internal ID14808134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128298057..128298058hg38UCSC Ensembl
Innerchr2:128298035..128298080hg38UCSC Ensembl
Outerchr2:128298034..128298081hg38UCSC Ensembl
chr2:129055631..129055632hg19UCSC Ensembl
Innerchr2:129055609..129055654hg19UCSC Ensembl
Outerchr2:129055608..129055655hg19UCSC Ensembl
chr2:128772101..128772102hg18UCSC Ensembl
Innerchr2:128772124..128772079hg18UCSC Ensembl
Outerchr2:128772078..128772125hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763772, essv7763506
SamplesNA07347, NA19143
Known GenesHS6ST1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307872
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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