A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588652



Internal ID6628943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206049174..206055297hg38UCSC Ensembl
Innerchr1:206049674..206054797hg38UCSC Ensembl
Outerchr1:206048174..206056297hg38UCSC Ensembl
chr1:206286074..206292194hg19UCSC Ensembl
Innerchr1:206286574..206291694hg19UCSC Ensembl
Outerchr1:206285074..206293194hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386124
hg196121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10274011, essv10274003, essv10274001, essv10274004, essv10274013, essv10274009, essv10274021, essv10273998, essv10274005, essv10274014, essv10274016, essv10274020, essv10274022, essv10274000, essv10273996, essv10273995, essv10274015, essv10274017, essv10274002, essv10274008, essv10274006, essv10274010, essv10273999, essv10274012, essv10274007, essv10274019, essv10274018, essv10273997
SamplesHG04096, HG02652, HG02784, HG03668, NA18944, NA18995, HG02687, HG00851, NA21103, HG00590, HG03887, HG02512, HG00534, NA20869, NA18975, HG02780, HG00443, HG03714, HG03718, NA20862, HG04054, NA18946, NA19009, NA19072, HG03600, NA18972, HG02778, HG01869
Known GenesC1orf186
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588652
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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