A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427549



Internal ID15274505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39831449..39831460hg38UCSC Ensembl
Innerchr7:39831451..39831458hg38UCSC Ensembl
Outerchr7:39831447..39831462hg38UCSC Ensembl
chr7:39871048..39871059hg19UCSC Ensembl
Innerchr7:39871050..39871057hg19UCSC Ensembl
Outerchr7:39871046..39871061hg19UCSC Ensembl
chr7:39837573..39837584hg18UCSC Ensembl
Innerchr7:39837575..39837582hg18UCSC Ensembl
Outerchr7:39837571..39837586hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864703
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427549
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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