A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607356



Internal ID6647597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159952005..160051796hg38UCSC Ensembl
chr5:159379012..159478803hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3899792
hg1999792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1150e214
Supporting Variantsessv12116447
SamplesHG01528
Known GenesADRA1B, TTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607356
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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