A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362186



Internal ID14862447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73185676..73186774hg38UCSC Ensembl
Innerchr7:73185774..73186676hg38UCSC Ensembl
Outerchr7:73184676..73187774hg38UCSC Ensembl
chr7:72599716..72600814hg19UCSC Ensembl
Innerchr7:72599814..72600716hg19UCSC Ensembl
Outerchr7:72598716..72601814hg19UCSC Ensembl
chr7:72237652..72238750hg18UCSC Ensembl
Innerchr7:72238652..72237750hg18UCSC Ensembl
Outerchr7:72236652..72239750hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696040
SamplesNA19239
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362186
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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