A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864692



Internal ID13317288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27502123..27502138hg38UCSC Ensembl
Innerchr7:27502125..27502136hg38UCSC Ensembl
Outerchr7:27502121..27502140hg38UCSC Ensembl
chr7:27541742..27541757hg19UCSC Ensembl
Innerchr7:27541744..27541755hg19UCSC Ensembl
Outerchr7:27541740..27541759hg19UCSC Ensembl
chr7:27508267..27508282hg18UCSC Ensembl
Innerchr7:27508269..27508280hg18UCSC Ensembl
Outerchr7:27508265..27508284hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434338
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864692
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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