A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647139



Internal ID7033880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44951037..44952068hg38UCSC Ensembl
Innerchr21:44951087..44952018hg38UCSC Ensembl
Outerchr21:44950874..44952231hg38UCSC Ensembl
chr21:46370952..46371983hg19UCSC Ensembl
Innerchr21:46371002..46371933hg19UCSC Ensembl
Outerchr21:46370789..46372146hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16334193, essv16334185, essv16334196, essv16334184, essv16334194, essv16334187, essv16334189, essv16334188, essv16334195, essv16334191, essv16334186, essv16334183, essv16334197, essv16334190, essv16334192
SamplesHG02382, HG01632, HG00355, HG00326, NA20818, HG01149, HG00740, NA19756, HG00240, NA20530, NA12874, HG01432, HG01783, HG00362, HG01747
Known GenesFAM207A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647139
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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