A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695678



Internal ID15054471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157562998..157563896hg38UCSC Ensembl
Innerchr7:157562997..157563897hg38UCSC Ensembl
Outerchr7:157561998..157564896hg38UCSC Ensembl
chr7:157355691..157356589hg19UCSC Ensembl
Innerchr7:157355690..157356590hg19UCSC Ensembl
Outerchr7:157354691..157357589hg19UCSC Ensembl
chr7:157048452..157049350hg18UCSC Ensembl
Innerchr7:157049351..157048451hg18UCSC Ensembl
Outerchr7:157047452..157050350hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369863
Supporting Variants
SamplesNA19239
Known GenesPTPRN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695678
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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