A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837206



Internal ID15038596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31304589..31304590hg38UCSC Ensembl
Innerchr2:31304554..31304625hg38UCSC Ensembl
Outerchr2:31304553..31304626hg38UCSC Ensembl
chr2:31527455..31527456hg19UCSC Ensembl
Innerchr2:31527420..31527491hg19UCSC Ensembl
Outerchr2:31527419..31527492hg19UCSC Ensembl
chr2:31380959..31380960hg18UCSC Ensembl
Innerchr2:31380995..31380924hg18UCSC Ensembl
Outerchr2:31380923..31380996hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308738
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837206
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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