A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608712



Internal ID6995636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36802023..36802854hg38UCSC Ensembl
Innerchr6:36802071..36802806hg38UCSC Ensembl
Outerchr6:36801975..36802902hg38UCSC Ensembl
chr6:36769799..36770630hg19UCSC Ensembl
Innerchr6:36769847..36770582hg19UCSC Ensembl
Outerchr6:36769751..36770678hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12320376
SamplesHG04229
Known GenesCPNE5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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