A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325280



Internal ID15172261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31852977..31852991hg38UCSC Ensembl
Innerchr7:31852970..31852995hg38UCSC Ensembl
Outerchr7:31852956..31853009hg38UCSC Ensembl
chr7:31892591..31892605hg19UCSC Ensembl
Innerchr7:31892584..31892609hg19UCSC Ensembl
Outerchr7:31892570..31892623hg19UCSC Ensembl
chr7:31859116..31859130hg18UCSC Ensembl
Innerchr7:31859134..31859109hg18UCSC Ensembl
Outerchr7:31859095..31859148hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8935108, essv8935115, essv8935109, essv8935120, essv8935104, essv8935105, essv8935118, essv8935119, essv8935112, essv8935117, essv8935106, essv8935116, essv8935103, essv8935107, essv8935111, essv8935110
SamplesNA18861, NA18508, NA12751, NA18870, NA18510, NA18489, NA18916, NA19138, NA18498, NA12828, NA18912, NA19099, NA18523, NA18909, NA19108, NA18522
Known GenesPDE1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325280
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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