A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740957



Internal ID14738650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24335578..24335578hg38UCSC Ensembl
Innerchr1:24335577..24335579hg38UCSC Ensembl
Outerchr1:24335528..24335628hg38UCSC Ensembl
chr1:24662068..24662068hg19UCSC Ensembl
Innerchr1:24662067..24662069hg19UCSC Ensembl
Outerchr1:24662018..24662118hg19UCSC Ensembl
chr1:24534655..24534655hg18UCSC Ensembl
Innerchr1:24534656..24534654hg18UCSC Ensembl
Outerchr1:24534605..24534705hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38438
hg19438
hg18438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426242
Supporting Variants
SamplesNA19240
Known GenesGRHL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740957
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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