A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402198



Internal ID15249160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31852968..31852987hg38UCSC Ensembl
Innerchr7:31852964..31852991hg38UCSC Ensembl
Outerchr7:31852945..31853010hg38UCSC Ensembl
chr7:31892582..31892601hg19UCSC Ensembl
Innerchr7:31892578..31892605hg19UCSC Ensembl
Outerchr7:31892559..31892624hg19UCSC Ensembl
chr7:31859107..31859126hg18UCSC Ensembl
Innerchr7:31859130..31859103hg18UCSC Ensembl
Outerchr7:31859084..31859149hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9633202
SamplesNA12287
Known GenesPDE1C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402198
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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