A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8909382



Internal ID15118398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:163655056..163655110hg38UCSC Ensembl
Innerchr2:163655069..163655095hg38UCSC Ensembl
Outerchr2:163655015..163655149hg38UCSC Ensembl
chr2:164511566..164511620hg19UCSC Ensembl
Innerchr2:164511579..164511605hg19UCSC Ensembl
Outerchr2:164511525..164511659hg19UCSC Ensembl
chr2:164219812..164219866hg18UCSC Ensembl
Innerchr2:164219851..164219825hg18UCSC Ensembl
Outerchr2:164219771..164219905hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38167
hg19167
hg18167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444904
Supporting Variants
SamplesNA19257
Known GenesFIGN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8909382
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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