A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336748



Internal ID15183736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39259728..39261426hg38UCSC Ensembl
Innerchr7:39260426..39260728hg38UCSC Ensembl
Outerchr7:39258728..39262426hg38UCSC Ensembl
chr7:39299327..39301025hg19UCSC Ensembl
Innerchr7:39300025..39300327hg19UCSC Ensembl
Outerchr7:39298327..39302025hg19UCSC Ensembl
chr7:39265852..39267550hg18UCSC Ensembl
Innerchr7:39266852..39266550hg18UCSC Ensembl
Outerchr7:39264852..39268550hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3773e59
Supporting Variantsessv8695777
SamplesNA19239
Known GenesPOU6F2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336748
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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