A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863563



Internal ID14950883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51728777..51728827hg38UCSC Ensembl
Innerchr20:51728767..51728837hg38UCSC Ensembl
Outerchr20:51728717..51728887hg38UCSC Ensembl
chr20:50345316..50345366hg19UCSC Ensembl
Innerchr20:50345306..50345376hg19UCSC Ensembl
Outerchr20:50345256..50345426hg19UCSC Ensembl
chr20:49778723..49778773hg18UCSC Ensembl
Innerchr20:49778783..49778713hg18UCSC Ensembl
Outerchr20:49778663..49778833hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395647
Supporting Variants
SamplesNA19172
Known GenesATP9A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863563
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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