A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585201



Internal ID6625520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10483488..10485935hg38UCSC Ensembl
Innerchr1:10483488..10485935hg38UCSC Ensembl
Outerchr1:10482973..10486263hg38UCSC Ensembl
chr1:10543545..10545992hg19UCSC Ensembl
Innerchr1:10543545..10545992hg19UCSC Ensembl
Outerchr1:10543030..10546320hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9853208, essv9853202, essv9853180, essv9853205, essv9853188, essv9853210, essv9853216, essv9853211, essv9853185, essv9853206, essv9853184, essv9853181, essv9853189, essv9853197, essv9853200, essv9853199, essv9853203, essv9853201, essv9853192, essv9853178, essv9853177, essv9853183, essv9853204, essv9853198, essv9853212, essv9853195, essv9853215, essv9853209, essv9853214, essv9853182, essv9853191, essv9853187, essv9853190, essv9853193, essv9853196, essv9853213, essv9853179, essv9853194, essv9853176, essv9853186, essv9853207
SamplesHG02339, HG01443, NA19399, HG02433, HG03449, NA18917, NA19092, HG03521, HG02476, NA19098, NA18870, HG03199, HG02621, HG02952, HG02325, NA20317, NA19138, NA19041, HG02703, HG03189, NA19372, HG03352, NA20318, NA19347, HG02887, HG00551, HG02976, NA18499, NA19338, NA20296, NA19019, NA20351, NA19380, HG03304, NA19351, HG03025, NA19713, HG03410, HG02051, HG03162, HG02855
Known GenesPEX14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585201
Frequency
Sample Size2504
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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