A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645204



Internal ID7031955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10161332..10163390hg38UCSC Ensembl
Innerchr20:10161367..10163355hg38UCSC Ensembl
Outerchr20:10161297..10163425hg38UCSC Ensembl
chr20:10141980..10144038hg19UCSC Ensembl
Innerchr20:10142015..10144003hg19UCSC Ensembl
Outerchr20:10141945..10144073hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg382059
hg192059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16141891, essv16141888, essv16141889, essv16141887, essv16141886, essv16141896, essv16141895, essv16141893, essv16141890, essv16141894, essv16141892
SamplesHG00626, HG01806, HG01873, HG03585, NA18638, HG02076, HG00500, HG00531, HG01597, HG03646, HG00728
Known GenesSNAP25-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645204
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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