A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766517



Internal ID13604643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:19877075..19877076hg38UCSC Ensembl
Innerchr2:19877053..19877098hg38UCSC Ensembl
Outerchr2:19877052..19877099hg38UCSC Ensembl
chr2:20076836..20076837hg19UCSC Ensembl
Innerchr2:20076814..20076859hg19UCSC Ensembl
Outerchr2:20076813..20076860hg19UCSC Ensembl
chr2:19940317..19940318hg18UCSC Ensembl
Innerchr2:19940340..19940295hg18UCSC Ensembl
Outerchr2:19940294..19940341hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305520
Supporting Variants
SamplesNA12814
Known GenesLINC00954
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766517
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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