A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691738



Internal ID15107949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10776408..10778706hg38UCSC Ensembl
Innerchr1:10777408..10777706hg38UCSC Ensembl
Outerchr1:10775408..10779706hg38UCSC Ensembl
chr1:10836465..10838763hg19UCSC Ensembl
Innerchr1:10837465..10837763hg19UCSC Ensembl
Outerchr1:10835465..10839763hg19UCSC Ensembl
chr1:10759052..10761350hg18UCSC Ensembl
Innerchr1:10760052..10760350hg18UCSC Ensembl
Outerchr1:10758052..10762350hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435817
Supporting Variants
SamplesNA19240
Known GenesCASZ1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691738
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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