A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643648



Internal ID6683719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10101662..10103956hg38UCSC Ensembl
Innerchr19:10101662..10103956hg38UCSC Ensembl
Outerchr19:10101310..10104244hg38UCSC Ensembl
chr19:10212338..10214632hg19UCSC Ensembl
Innerchr19:10212338..10214632hg19UCSC Ensembl
Outerchr19:10211986..10214920hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382295
hg192295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990310, essv15990316, essv15990317, essv15990309, essv15990307, essv15990294, essv15990321, essv15990312, essv15990325, essv15990296, essv15990297, essv15990306, essv15990304, essv15990323, essv15990324, essv15990319, essv15990311, essv15990305, essv15990299, essv15990292, essv15990318, essv15990295, essv15990314, essv15990293, essv15990303, essv15990322, essv15990327, essv15990301, essv15990315, essv15990302, essv15990313, essv15990320, essv15990326, essv15990308, essv15990300, essv15990298
SamplesHG00323, HG02470, HG00304, NA20527, HG00350, HG00171, HG00160, NA12005, HG00331, HG00266, NA19652, HG00180, HG02221, NA20504, NA20757, HG01395, HG00178, HG01187, HG02737, HG01111, HG01308, HG00325, HG00365, HG00099, HG00105, HG01060, HG01393, NA12749, NA12889, HG01412, HG00379, HG02286, HG00288, NA20806, HG01602, HG01067
Known GenesANGPTL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643648
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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