A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447917



Internal ID14948180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240512505..240512505hg38UCSC Ensembl
Innerchr1:240512504..240512506hg38UCSC Ensembl
Outerchr1:240512445..240512555hg38UCSC Ensembl
chr1:240675805..240675805hg19UCSC Ensembl
Innerchr1:240675804..240675806hg19UCSC Ensembl
Outerchr1:240675745..240675855hg19UCSC Ensembl
chr1:238742428..238742428hg18UCSC Ensembl
Innerchr1:238742429..238742427hg18UCSC Ensembl
Outerchr1:238742368..238742478hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38179
hg19179
hg18179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8825158
SamplesNA19240
Known GenesGREM2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447917
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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