A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653272



Internal ID13388551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178656424..178656424hg38UCSC Ensembl
Innerchr2:178656423..178656425hg38UCSC Ensembl
Outerchr2:178656374..178656474hg38UCSC Ensembl
chr2:179521151..179521151hg19UCSC Ensembl
Innerchr2:179521150..179521152hg19UCSC Ensembl
Outerchr2:179521101..179521201hg19UCSC Ensembl
chr2:179229396..179229396hg18UCSC Ensembl
Innerchr2:179229397..179229395hg18UCSC Ensembl
Outerchr2:179229346..179229446hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38194
hg19194
hg18194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389257
Supporting Variants
SamplesNA12892
Known GenesMIR548N, TTN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653272
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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