A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12320170



Internal ID2321986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36604394..36605963hg38UCSC Ensembl
Innerchr6:36604394..36605963hg38UCSC Ensembl
Outerchr6:36604268..36606105hg38UCSC Ensembl
chr6:36572171..36573740hg19UCSC Ensembl
Innerchr6:36572171..36573740hg19UCSC Ensembl
Outerchr6:36572045..36573882hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608706
Supporting Variants
SamplesHG04188
Known GenesSRSF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12320170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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