A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303989



Internal ID15150937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65519321..65519322hg38UCSC Ensembl
Innerchr2:65519291..65519352hg38UCSC Ensembl
Outerchr2:65519290..65519353hg38UCSC Ensembl
chr2:65746455..65746456hg19UCSC Ensembl
Innerchr2:65746425..65746486hg19UCSC Ensembl
Outerchr2:65746424..65746487hg19UCSC Ensembl
chr2:65599959..65599960hg18UCSC Ensembl
Innerchr2:65599990..65599929hg18UCSC Ensembl
Outerchr2:65599928..65599991hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381600
hg191600
hg181600
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752577, essv7762937, essv7753122, essv7762354, essv7752280, essv7748102, essv7760800, essv7750770, essv7757079, essv7754273, essv7751114, essv7757258, essv7756679, essv7762867, essv7757714, essv7757441, essv7746098, essv7758008, essv7761659, essv7744157, essv7741950, essv7746842, essv7742212, essv7748505, essv7754328, essv7751302, essv7757603, essv7755046
SamplesNA12717, NA18561, NA12004, NA18510, NA18519, NA12891, NA18558, NA18960, NA18582, NA19138, NA19238, NA11993, NA10847, NA12003, NA12878, NA18579, NA18572, NA12249, NA12892, NA18523, NA18570, NA18576, NA18952, NA19240, NA07037, NA12154, NA18965, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303989
Frequency
Sample Size185
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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