A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408849



Internal ID15255810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:119619746..119619765hg38UCSC Ensembl
Innerchr7:119619742..119619769hg38UCSC Ensembl
Outerchr7:119619723..119619788hg38UCSC Ensembl
chr7:119259800..119259819hg19UCSC Ensembl
Innerchr7:119259796..119259823hg19UCSC Ensembl
Outerchr7:119259777..119259842hg19UCSC Ensembl
chr7:119047036..119047055hg18UCSC Ensembl
Innerchr7:119047059..119047032hg18UCSC Ensembl
Outerchr7:119047013..119047078hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9636003, essv9635991
SamplesNA12872, NA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408849
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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