A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307546



Internal ID15154494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138623205..138623206hg38UCSC Ensembl
Innerchr2:138623188..138623223hg38UCSC Ensembl
Outerchr2:138623187..138623224hg38UCSC Ensembl
chr2:139380775..139380776hg19UCSC Ensembl
Innerchr2:139380758..139380793hg19UCSC Ensembl
Outerchr2:139380757..139380794hg19UCSC Ensembl
chr2:139097245..139097246hg18UCSC Ensembl
Innerchr2:139097263..139097228hg18UCSC Ensembl
Outerchr2:139097227..139097264hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7809396, essv7807909, essv7775966, essv7813604, essv7794449, essv7790496, essv7780816, essv7824396, essv7798333, essv7798048, essv7811711, essv7804601, essv7785090, essv7787460, essv7809701, essv7815421, essv7783543, essv7774239, essv7833194, essv7810457, essv7776893, essv7779017, essv7789346, essv7832366, essv7800236, essv7801417, essv7836040, essv7828775, essv7835662, essv7793335, essv7801863, essv7804867, essv7830102
SamplesNA12717, NA11830, NA12414, NA18980, NA11920, NA18545, NA12004, NA18526, NA12750, NA12155, NA07357, NA07346, NA18940, NA18942, NA07347, NA12761, NA11994, NA18973, NA18605, NA12872, NA12234, NA12249, NA18570, NA18945, NA18576, NA11881, NA18961, NA18952, NA12749, NA19102, NA18552, NA07000, NA18577
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307546
Frequency
Sample Size185
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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