A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608885



Internal ID6649118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46629862..46631298hg38UCSC Ensembl
Innerchr6:46629863..46631298hg38UCSC Ensembl
Outerchr6:46629862..46631299hg38UCSC Ensembl
chr6:46597599..46599035hg19UCSC Ensembl
Innerchr6:46597600..46599035hg19UCSC Ensembl
Outerchr6:46597599..46599036hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12341403, essv12341404, essv12341407, essv12341405, essv12341402, essv12341406
SamplesNA19026, HG02621, HG03397, NA19347, HG02582, HG02721
Known GenesCYP39A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608885
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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