A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695809



Internal ID15095765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51476861..51478059hg38UCSC Ensembl
Innerchr7:51477059..51477861hg38UCSC Ensembl
Outerchr7:51475861..51479059hg38UCSC Ensembl
chr7:51544558..51545756hg19UCSC Ensembl
Innerchr7:51544756..51545558hg19UCSC Ensembl
Outerchr7:51543558..51546756hg19UCSC Ensembl
chr7:51512052..51513250hg18UCSC Ensembl
Innerchr7:51513052..51512250hg18UCSC Ensembl
Outerchr7:51511052..51514250hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351709
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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