A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395780



Internal ID15242744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39259728..39261126hg38UCSC Ensembl
Innerchr7:39260126..39260728hg38UCSC Ensembl
Outerchr7:39258728..39262126hg38UCSC Ensembl
chr7:39299327..39300725hg19UCSC Ensembl
Innerchr7:39299725..39300327hg19UCSC Ensembl
Outerchr7:39298327..39301725hg19UCSC Ensembl
chr7:39265852..39267250hg18UCSC Ensembl
Innerchr7:39266852..39266250hg18UCSC Ensembl
Outerchr7:39264852..39268250hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3773e59
Supporting Variantsessv8695776
SamplesNA19238
Known GenesPOU6F2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395780
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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