A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396299



Internal ID14896577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1237786..1238222hg38UCSC Ensembl
Innerchr10:1237786..1238223hg38UCSC Ensembl
Outerchr10:1235462..1238730hg38UCSC Ensembl
chr10:1281508..1281639hg19UCSC Ensembl
Innerchr10:1281507..1281640hg19UCSC Ensembl
Outerchr10:1281398..1281759hg19UCSC Ensembl
chr10:1271508..1271639hg18UCSC Ensembl
Innerchr10:1271640..1271507hg18UCSC Ensembl
Outerchr10:1271398..1271759hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38437
hg19132
hg18132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808484
SamplesNA12878
Known GenesADARB2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396299
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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