A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647603



Internal ID7034343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32234853..32235767hg38UCSC Ensembl
Innerchr22:32234853..32235767hg38UCSC Ensembl
Outerchr22:32234548..32236123hg38UCSC Ensembl
chr22:32630840..32631754hg19UCSC Ensembl
Innerchr22:32630840..32631754hg19UCSC Ensembl
Outerchr22:32630535..32632110hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16404893, essv16404890, essv16404888, essv16404891, essv16404896, essv16404894, essv16404892, essv16404887, essv16404897, essv16404889, essv16404895
SamplesNA19703, NA19909, NA19466, HG03455, HG03105, HG02582, HG03136, HG02635, HG03437, HG02759, HG02006
Known GenesSLC5A4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647603
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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