A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864641



Internal ID12970538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121440209..121440218hg38UCSC Ensembl
Innerchr6:121440206..121440221hg38UCSC Ensembl
Outerchr6:121440197..121440230hg38UCSC Ensembl
chr6:121761355..121761364hg19UCSC Ensembl
Innerchr6:121761352..121761367hg19UCSC Ensembl
Outerchr6:121761343..121761376hg19UCSC Ensembl
chr6:121803054..121803063hg18UCSC Ensembl
Innerchr6:121803066..121803051hg18UCSC Ensembl
Outerchr6:121803042..121803075hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384624
Supporting Variants
SamplesNA12005
Known GenesGJA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864641
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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