A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604872



Internal ID6645122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42581945..42585494hg38UCSC Ensembl
Innerchr5:42581945..42585494hg38UCSC Ensembl
Outerchr5:42581811..42585752hg38UCSC Ensembl
chr5:42582047..42585596hg19UCSC Ensembl
Innerchr5:42582047..42585596hg19UCSC Ensembl
Outerchr5:42581913..42585854hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882289
SamplesHG01598
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604872
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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