A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12519227



Internal ID2521043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118818233..118834600hg38UCSC Ensembl
Innerchr6:118818233..118834600hg38UCSC Ensembl
Outerchr6:118817733..118835100hg38UCSC Ensembl
chr6:119139396..119155763hg19UCSC Ensembl
Innerchr6:119139396..119155763hg19UCSC Ensembl
Outerchr6:119138896..119156263hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3816368
hg1916368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610527
Supporting Variants
SamplesHG01489
Known GenesMCM9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12519227
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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