A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7806761



Internal ID13119601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55120514..55120515hg38UCSC Ensembl
Innerchr8:55120496..55120533hg38UCSC Ensembl
Outerchr8:55120495..55120534hg38UCSC Ensembl
chr8:56033074..56033075hg19UCSC Ensembl
Innerchr8:56033056..56033093hg19UCSC Ensembl
Outerchr8:56033055..56033094hg19UCSC Ensembl
chr8:56195628..56195629hg18UCSC Ensembl
Innerchr8:56195647..56195610hg18UCSC Ensembl
Outerchr8:56195609..56195648hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38309
hg19309
hg18309
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303645
Supporting Variants
SamplesNA12489
Known GenesXKR4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7806761
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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