A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864676



Internal ID13317264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167035571..167035586hg38UCSC Ensembl
Innerchr6:167035576..167035581hg38UCSC Ensembl
Outerchr6:167035566..167035591hg38UCSC Ensembl
chr6:167449059..167449074hg19UCSC Ensembl
Innerchr6:167449064..167449069hg19UCSC Ensembl
Outerchr6:167449054..167449079hg19UCSC Ensembl
chr6:167369049..167369064hg18UCSC Ensembl
Innerchr6:167369054..167369059hg18UCSC Ensembl
Outerchr6:167369044..167369069hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327167
Supporting Variants
SamplesNA12005
Known GenesFGFR1OP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864676
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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