A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605434



Internal ID6992456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74686621..74693870hg38UCSC Ensembl
chr5:73982446..73989695hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11945133
SamplesNA12749
Known GenesHEXB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605434
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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