A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8906630



Internal ID14885687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57750147..57750164hg38UCSC Ensembl
Innerchr2:57750150..57750161hg38UCSC Ensembl
Outerchr2:57750133..57750178hg38UCSC Ensembl
chr2:57977282..57977299hg19UCSC Ensembl
Innerchr2:57977285..57977296hg19UCSC Ensembl
Outerchr2:57977268..57977313hg19UCSC Ensembl
chr2:57830786..57830803hg18UCSC Ensembl
Innerchr2:57830800..57830789hg18UCSC Ensembl
Outerchr2:57830772..57830817hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346393
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8906630
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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