A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864001



Internal ID13049240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120577819..120577828hg38UCSC Ensembl
Innerchr2:120577819..120577828hg38UCSC Ensembl
Outerchr2:120577810..120577837hg38UCSC Ensembl
chr2:121335395..121335404hg19UCSC Ensembl
Innerchr2:121335395..121335404hg19UCSC Ensembl
Outerchr2:121335386..121335413hg19UCSC Ensembl
chr2:121051865..121051874hg18UCSC Ensembl
Innerchr2:121051874..121051865hg18UCSC Ensembl
Outerchr2:121051856..121051883hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376093
Supporting Variants
SamplesNA07346
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864001
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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