A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8904038



Internal ID13428968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247589278..247589329hg38UCSC Ensembl
Innerchr1:247589285..247589322hg38UCSC Ensembl
Outerchr1:247589234..247589373hg38UCSC Ensembl
chr1:247752580..247752631hg19UCSC Ensembl
Innerchr1:247752587..247752624hg19UCSC Ensembl
Outerchr1:247752536..247752675hg19UCSC Ensembl
chr1:245819203..245819254hg18UCSC Ensembl
Innerchr1:245819247..245819210hg18UCSC Ensembl
Outerchr1:245819159..245819298hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3442383
Supporting Variants
SamplesNA12249
Known GenesOR2G2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8904038
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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