A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9596647



Internal ID13172451
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 StatusS
Merged Variantsesv3328988
Supporting Variants
SamplesNA11881
Known GenesADCY10
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9596647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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