A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587336



Internal ID6974762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118939579..118941037hg38UCSC Ensembl
Innerchr1:118939579..118941037hg38UCSC Ensembl
Outerchr1:118939266..118941294hg38UCSC Ensembl
chr1:119482202..119483660hg19UCSC Ensembl
Innerchr1:119482202..119483660hg19UCSC Ensembl
Outerchr1:119481889..119483917hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381459
hg191459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10083186, essv10083193, essv10083181, essv10083185, essv10083176, essv10083200, essv10083203, essv10083172, essv10083207, essv10083183, essv10083204, essv10083174, essv10083180, essv10083191, essv10083194, essv10083182, essv10083179, essv10083212, essv10083211, essv10083177, essv10083195, essv10083192, essv10083202, essv10083190, essv10083205, essv10083198, essv10083201, essv10083187, essv10083197, essv10083209, essv10083206, essv10083184, essv10083170, essv10083208, essv10083178, essv10083188, essv10083199, essv10083175, essv10083196, essv10083171, essv10083173, essv10083210, essv10083189
SamplesNA19222, HG01402, HG02496, NA19204, NA18861, NA18508, HG02318, HG02836, HG03295, HG03172, HG02888, NA19443, HG03133, HG03499, NA19119, HG02620, NA18498, NA19904, HG01893, HG03212, HG03352, HG01259, NA19189, HG02477, NA19921, HG02879, HG01088, NA19982, HG02953, HG02470, HG01630, NA18879, NA19225, HG03028, HG02667, HG03539, NA19019, HG03458, HG02580, HG03108, NA20357, NA19818, NA20289
Known GenesTBX15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587336
Frequency
Sample Size2504
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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