A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945135



Internal ID6019776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74686621..74693870hg38UCSC Ensembl
chr5:73982446..73989695hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605435
Supporting Variants
SamplesNA19431
Known GenesHEXB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945135
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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