A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328988



Internal ID15175975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167889434..167889453hg38UCSC Ensembl
Innerchr1:167889430..167889457hg38UCSC Ensembl
Outerchr1:167889411..167889476hg38UCSC Ensembl
chr1:167858672..167858691hg19UCSC Ensembl
Innerchr1:167858668..167858695hg19UCSC Ensembl
Outerchr1:167858649..167858714hg19UCSC Ensembl
chr1:166125296..166125315hg18UCSC Ensembl
Innerchr1:166125319..166125292hg18UCSC Ensembl
Outerchr1:166125273..166125338hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9596647, essv9596658
SamplesNA12043, NA11881
Known GenesADCY10
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328988
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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