A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398419



Internal ID15245382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92576368..92576393hg38UCSC Ensembl
Innerchr7:92576379..92576382hg38UCSC Ensembl
Outerchr7:92576354..92576407hg38UCSC Ensembl
chr7:92205682..92205707hg19UCSC Ensembl
Innerchr7:92205693..92205696hg19UCSC Ensembl
Outerchr7:92205668..92205721hg19UCSC Ensembl
chr7:92043618..92043643hg18UCSC Ensembl
Innerchr7:92043632..92043629hg18UCSC Ensembl
Outerchr7:92043604..92043657hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8936378, essv8936381, essv8936379, essv8936382
SamplesNA18508, NA18871, NA18907, NA19116
Known GenesFAM133B, FAM133DP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398419
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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