A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633622



Internal ID7020430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113808937..113835264hg38UCSC Ensembl
chr13:114511910..114538237hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3826328
hg1926328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14909524, essv14909526, essv14909523, essv14909525, essv14909520, essv14909521, essv14909519, essv14909522, essv14909527, essv14909528
SamplesHG01054, NA19664, HG01079, HG00251, NA19764, HG00739, HG01512, NA20821, HG01620, NA07037
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633622
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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