A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587338



Internal ID6974764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118984317..118988426hg38UCSC Ensembl
Innerchr1:118984317..118988426hg38UCSC Ensembl
Outerchr1:118983817..118988926hg38UCSC Ensembl
chr1:119526940..119531049hg19UCSC Ensembl
Innerchr1:119526940..119531049hg19UCSC Ensembl
Outerchr1:119526440..119531549hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg384110
hg194110
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10083235, essv10083238, essv10083227, essv10083239, essv10083218, essv10083241, essv10083217, essv10083236, essv10083247, essv10083220, essv10083234, essv10083242, essv10083248, essv10083228, essv10083249, essv10083243, essv10083246, essv10083240, essv10083250, essv10083216, essv10083232, essv10083230, essv10083233, essv10083223, essv10083244, essv10083224, essv10083229, essv10083221, essv10083219, essv10083215, essv10083237, essv10083245, essv10083251, essv10083214, essv10083222, essv10083226, essv10083225, essv10083231
SamplesHG00235, NA21110, HG02496, HG00358, NA19734, NA20298, HG02285, NA18995, HG02105, HG01277, HG00355, NA21108, NA19036, NA20412, HG01626, HG01275, HG00349, NA18747, HG02090, HG01271, HG02511, HG02084, HG01345, NA19118, NA18946, NA19149, NA19735, HG02088, HG01272, NA18992, NA19741, NA19117, NA18994, NA19185, HG00234, HG01617, NA19146, NA19214
Known GenesTBX15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587338
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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