A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345500



Internal ID15192484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52768719..52768732hg38UCSC Ensembl
Innerchr7:52768725..52768726hg38UCSC Ensembl
Outerchr7:52768712..52768739hg38UCSC Ensembl
chr7:52836413..52836426hg19UCSC Ensembl
Innerchr7:52836419..52836420hg19UCSC Ensembl
Outerchr7:52836406..52836433hg19UCSC Ensembl
chr7:52803907..52803920hg18UCSC Ensembl
Innerchr7:52803914..52803913hg18UCSC Ensembl
Outerchr7:52803900..52803927hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864706, essv7864707
SamplesNA19172, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345500
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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