A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589036



Internal ID6976452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227589043..227591342hg38UCSC Ensembl
Innerchr1:227589044..227591342hg38UCSC Ensembl
Outerchr1:227589043..227591343hg38UCSC Ensembl
chr1:227776744..227779043hg19UCSC Ensembl
Innerchr1:227776745..227779043hg19UCSC Ensembl
Outerchr1:227776744..227779044hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10312223, essv10312209, essv10312230, essv10312215, essv10312257, essv10312203, essv10312200, essv10312245, essv10312219, essv10312233, essv10312258, essv10312199, essv10312213, essv10312251, essv10312243, essv10312241, essv10312262, essv10312229, essv10312261, essv10312222, essv10312224, essv10312232, essv10312246, essv10312225, essv10312220, essv10312237, essv10312254, essv10312253, essv10312242, essv10312228, essv10312221, essv10312235, essv10312218, essv10312252, essv10312210, essv10312238, essv10312207, essv10312216, essv10312249, essv10312264, essv10312256, essv10312244, essv10312198, essv10312206, essv10312202, essv10312239, essv10312263, essv10312234, essv10312231, essv10312212, essv10312227, essv10312217, essv10312205, essv10312201, essv10312226, essv10312247, essv10312208, essv10312204, essv10312260, essv10312197, essv10312255, essv10312236, essv10312248, essv10312250, essv10312211, essv10312240, essv10312214, essv10312259
SamplesNA18502, NA19141, HG03121, HG00142, HG00102, HG03731, HG01947, NA20517, HG01461, HG03133, HG02811, NA20586, HG01168, NA19197, NA19041, HG00379, NA19137, HG01072, HG03045, NA21107, HG04020, NA19445, HG03270, HG02879, HG02716, NA19175, NA19184, NA20810, NA20536, NA18516, NA19658, HG01092, HG01414, HG01762, HG03136, HG02309, HG01182, HG00141, HG02332, HG03109, HG02484, HG02722, HG03720, HG02807, HG02667, HG02557, HG03367, NA20815, HG03838, HG02721, HG01685, HG01362, HG01375, HG03259, NA20504, HG02771, HG03112, NA19223, NA20510, HG03351, HG02676, HG01479, HG02855, HG03072, HG00554, HG01061, HG03166, NA20511
Known GenesZNF678
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589036
Frequency
Sample Size2504
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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