A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653285



Internal ID13323691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2305620..2305620hg38UCSC Ensembl
Innerchr2:2305619..2305621hg38UCSC Ensembl
Outerchr2:2305570..2305670hg38UCSC Ensembl
chr2:2309392..2309392hg19UCSC Ensembl
Innerchr2:2309391..2309393hg19UCSC Ensembl
Outerchr2:2309342..2309442hg19UCSC Ensembl
chr2:2288399..2288399hg18UCSC Ensembl
Innerchr2:2288400..2288398hg18UCSC Ensembl
Outerchr2:2288349..2288449hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381140
hg191140
hg181140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3408207
Supporting Variants
SamplesNA12878
Known GenesMYT1L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653285
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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