A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306380



Internal ID15153328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122804288..122804289hg38UCSC Ensembl
Innerchr10:122804271..122804306hg38UCSC Ensembl
Outerchr10:122804270..122804307hg38UCSC Ensembl
chr10:124563804..124563805hg19UCSC Ensembl
Innerchr10:124563787..124563822hg19UCSC Ensembl
Outerchr10:124563786..124563823hg19UCSC Ensembl
chr10:124553794..124553795hg18UCSC Ensembl
Innerchr10:124553812..124553777hg18UCSC Ensembl
Outerchr10:124553776..124553813hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38307
hg19307
hg18307
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7774993, essv7813349, essv7822901, essv7819201, essv7803496, essv7822256, essv7824875, essv7814377, essv7808327, essv7828932, essv7833875, essv7778050, essv7834674, essv7770044, essv7823739, essv7807365, essv7787067, essv7827362, essv7810289, essv7824219, essv7797666, essv7829201, essv7779168, essv7798965, essv7772874, essv7807796, essv7788367, essv7783880, essv7821070, essv7823614, essv7796662, essv7825773, essv7785789, essv7836121, essv7814128, essv7821396, essv7782958
SamplesNA18947, NA11995, NA18861, NA12814, NA10851, NA18561, NA18944, NA18940, NA12812, NA18558, NA11992, NA18582, NA18571, NA18970, NA12044, NA18973, NA18638, NA10847, NA18605, NA12003, NA18516, NA18572, NA18948, NA18537, NA18566, NA18573, NA19114, NA18608, NA18542, NA18952, NA18564, NA18943, NA12763, NA18609, NA12006, NA18965, NA18577
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306380
Frequency
Sample Size185
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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