A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693571



Internal ID14660429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241590164..241591262hg38UCSC Ensembl
Innerchr2:241590262..241591164hg38UCSC Ensembl
Outerchr2:241589164..241592262hg38UCSC Ensembl
chr2:242529579..242530677hg19UCSC Ensembl
Innerchr2:242529677..242530579hg19UCSC Ensembl
Outerchr2:242528579..242531677hg19UCSC Ensembl
chr2:242178252..242179350hg18UCSC Ensembl
Innerchr2:242179252..242178350hg18UCSC Ensembl
Outerchr2:242177252..242180350hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442695
Supporting Variants
SamplesNA19238
Known GenesTHAP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693571
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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