A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8936381



Internal ID14399925
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 StatusS
Merged Variantsesv3398419
Supporting Variants
SamplesNA18871
Known GenesFAM133B, FAM133DP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8936381
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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