A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7811711



Internal ID13261650
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 StatusS
Merged Variantsesv3307546
Supporting Variants
SamplesNA11994
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7811711
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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