A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638129



Internal ID7024915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19977128..19981213hg38UCSC Ensembl
chr16:19988450..19992535hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg384086
hg194086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15399268, essv15399272, essv15399274, essv15399273, essv15399277, essv15399281, essv15399278, essv15399288, essv15399271, essv15399255, essv15399265, essv15399256, essv15399276, essv15399257, essv15399279, essv15399269, essv15399263, essv15399254, essv15399252, essv15399253, essv15399285, essv15399283, essv15399267, essv15399287, essv15399266, essv15399282, essv15399258, essv15399261, essv15399286, essv15399259, essv15399270, essv15399260, essv15399289, essv15399264, essv15399290, essv15399280, essv15399262, essv15399284, essv15399275
SamplesHG02496, NA19704, NA18507, HG02337, HG02323, HG03100, HG03193, HG02888, NA18519, NA18489, NA19119, NA20317, HG03105, NA19138, HG01242, HG02143, HG03520, NA18868, NA19235, NA18864, NA18908, NA20318, NA18933, NA18858, NA19309, NA19256, HG01894, NA19380, HG02611, HG02314, HG02941, HG03304, HG03108, NA19143, HG01912, NA18873, HG01883, HG02947, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638129
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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