A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731453



Internal ID13623776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125824765..125825184hg38UCSC Ensembl
Innerchr10:125824865..125825084hg38UCSC Ensembl
Outerchr10:125824665..125825284hg38UCSC Ensembl
chr10:127513334..127513753hg19UCSC Ensembl
Innerchr10:127513434..127513653hg19UCSC Ensembl
Outerchr10:127513234..127513853hg19UCSC Ensembl
chr10:127503324..127503743hg18UCSC Ensembl
Innerchr10:127503424..127503643hg18UCSC Ensembl
Outerchr10:127503224..127503843hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38420
hg19420
hg18420
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302504
Supporting Variants
SamplesNA12878
Known GenesBCCIP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731453
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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