A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9678524



Internal ID13070268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9624549..9624568hg38UCSC Ensembl
Innerchr20:9624545..9624572hg38UCSC Ensembl
Outerchr20:9624526..9624591hg38UCSC Ensembl
chr20:9605196..9605215hg19UCSC Ensembl
Innerchr20:9605192..9605219hg19UCSC Ensembl
Outerchr20:9605173..9605238hg19UCSC Ensembl
chr20:9553196..9553215hg18UCSC Ensembl
Innerchr20:9553219..9553192hg18UCSC Ensembl
Outerchr20:9553173..9553238hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352433
Supporting Variants
SamplesNA07347
Known GenesPAK7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9678524
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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