A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749876



Internal ID14309980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157547577..157547578hg38UCSC Ensembl
Innerchr6:157547455..157547700hg38UCSC Ensembl
Outerchr6:157547454..157547701hg38UCSC Ensembl
chr6:157968609..157968610hg19UCSC Ensembl
Innerchr6:157968487..157968732hg19UCSC Ensembl
Outerchr6:157968486..157968733hg19UCSC Ensembl
chr6:157888597..157888598hg18UCSC Ensembl
Innerchr6:157888720..157888475hg18UCSC Ensembl
Outerchr6:157888474..157888721hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386040
hg196040
hg186040
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306470
Supporting Variants
SamplesNA18608
Known GenesZDHHC14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749876
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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