A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604844



Internal ID6645094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41420580..41426581hg38UCSC Ensembl
Innerchr5:41420580..41426581hg38UCSC Ensembl
Outerchr5:41420313..41426821hg38UCSC Ensembl
chr5:41420682..41426683hg19UCSC Ensembl
Innerchr5:41420682..41426683hg19UCSC Ensembl
Outerchr5:41420415..41426923hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882005, essv11882004
SamplesHG00437, HG00634
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604844
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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