A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678411



Internal ID13664235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606178..57606197hg38UCSC Ensembl
Innerchr1:57606174..57606201hg38UCSC Ensembl
Outerchr1:57606155..57606220hg38UCSC Ensembl
chr1:58071850..58071869hg19UCSC Ensembl
Innerchr1:58071846..58071873hg19UCSC Ensembl
Outerchr1:58071827..58071892hg19UCSC Ensembl
chr1:57844438..57844457hg18UCSC Ensembl
Innerchr1:57844461..57844434hg18UCSC Ensembl
Outerchr1:57844415..57844480hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336060
Supporting Variants
SamplesNA12878
Known GenesDAB1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678411
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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