A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741221



Internal ID15087966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128005640..128005742hg38UCSC Ensembl
Innerchr6:128005690..128005692hg38UCSC Ensembl
Outerchr6:128005590..128005792hg38UCSC Ensembl
chr6:128326785..128326887hg19UCSC Ensembl
Innerchr6:128326835..128326837hg19UCSC Ensembl
Outerchr6:128326735..128326937hg19UCSC Ensembl
chr6:128368478..128368580hg18UCSC Ensembl
Innerchr6:128368528..128368530hg18UCSC Ensembl
Outerchr6:128368428..128368630hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38103
hg19103
hg18103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449513
Supporting Variants
SamplesNA19240
Known GenesPTPRK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741221
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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