A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307668



Internal ID15154616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31852977..31852978hg38UCSC Ensembl
Innerchr7:31852960..31852995hg38UCSC Ensembl
Outerchr7:31852959..31852996hg38UCSC Ensembl
chr7:31892591..31892592hg19UCSC Ensembl
Innerchr7:31892574..31892609hg19UCSC Ensembl
Outerchr7:31892573..31892610hg19UCSC Ensembl
chr7:31859116..31859117hg18UCSC Ensembl
Innerchr7:31859134..31859099hg18UCSC Ensembl
Outerchr7:31859098..31859135hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7820248, essv7836301, essv7808661, essv7817346, essv7797240, essv7786352, essv7778761, essv7792461, essv7771413, essv7832137, essv7820398, essv7791610, essv7825937, essv7825503, essv7832956, essv7817913, essv7793206
SamplesNA18861, NA18508, NA12751, NA18870, NA18510, NA18489, NA18916, NA12287, NA19138, NA18498, NA12828, NA18912, NA19099, NA18523, NA18909, NA19108, NA18522
Known GenesPDE1C
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307668
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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