A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605439



Internal ID6992461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74927181..74928056hg38UCSC Ensembl
Innerchr5:74927209..74928029hg38UCSC Ensembl
Outerchr5:74927154..74928084hg38UCSC Ensembl
chr5:74223006..74223881hg19UCSC Ensembl
Innerchr5:74223034..74223854hg19UCSC Ensembl
Outerchr5:74222979..74223909hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11945151, essv11945150
SamplesNA12383, NA11932
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605439
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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