A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11984544



Internal ID2454505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:97007893..97009894hg38UCSC Ensembl
Innerchr5:97007912..97009875hg38UCSC Ensembl
Outerchr5:97007874..97009913hg38UCSC Ensembl
chr5:96343597..96345598hg19UCSC Ensembl
Innerchr5:96343616..96345579hg19UCSC Ensembl
Outerchr5:96343578..96345617hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382002
hg192002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605871
Supporting Variants
SamplesHG02156
Known GenesLNPEP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11984544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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