A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8907555



Internal ID13783832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105600204..105600214hg38UCSC Ensembl
Innerchr2:105600200..105600216hg38UCSC Ensembl
Outerchr2:105600192..105600226hg38UCSC Ensembl
chr2:106216661..106216671hg19UCSC Ensembl
Innerchr2:106216657..106216673hg19UCSC Ensembl
Outerchr2:106216649..106216683hg19UCSC Ensembl
chr2:105583093..105583103hg18UCSC Ensembl
Innerchr2:105583105..105583089hg18UCSC Ensembl
Outerchr2:105583081..105583115hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg386027
hg196027
hg186027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360720
Supporting Variants
SamplesNA18501
Known GenesLOC285000
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8907555
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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