A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302908



Internal ID15149856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118136420..118136534hg38UCSC Ensembl
Innerchr2:118136477..118136477hg38UCSC Ensembl
Outerchr2:118136320..118136634hg38UCSC Ensembl
chr2:118893996..118894110hg19UCSC Ensembl
Innerchr2:118894053..118894053hg19UCSC Ensembl
Outerchr2:118893896..118894210hg19UCSC Ensembl
chr2:118610466..118610580hg18UCSC Ensembl
Innerchr2:118610523..118610523hg18UCSC Ensembl
Outerchr2:118610366..118610680hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38115
hg19115
hg18115
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2223e59
Supporting Variantsessv7733406, essv7736150, essv7735493, essv7732162, essv7734127, essv7735304, essv7731853, essv7735167, essv7733133, essv7733705, essv7736709, essv7733232, essv7734773, essv7732260, essv7738315, essv7739086, essv7739024, essv7735898, essv7734076, essv7732131, essv7732853, essv7732802, essv7732728, essv7737402, essv7739257, essv7732551, essv7738783, essv7737928, essv7734507, essv7738565, essv7736827, essv7738996, essv7735018, essv7734206, essv7738061, essv7736933, essv7733572, essv7736004, essv7733072, essv7735259, essv7737481, essv7735424, essv7738937
SamplesNA18502, NA18947, NA11995, NA18861, NA10851, NA12414, NA18507, NA11931, NA18603, NA12004, NA07357, NA07346, NA18944, NA18547, NA18942, NA18916, NA18949, NA12156, NA19238, NA12044, NA11993, NA18951, NA12878, NA18956, NA18948, NA19114, NA12892, NA18532, NA19099, NA18570, NA18858, NA18542, NA18909, NA11881, NA19108, NA18517, NA18564, NA19240, NA18501, NA12749, NA19093, NA18505, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302908
Frequency
Sample Size185
Observed Gain43
Observed Loss0
Observed Complex0
Frequencyn/a


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