A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3856e59



Internal ID22765076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75301292..75309156hg38UCSC Ensembl
chr7:74930416..74938314hg19UCSC Ensembl
chr7:74768352..74776250hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387865
hg197899
hg187899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3395496, esv3418261
SamplesNA19239, NA12878
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3856e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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