A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602447



Internal ID6989481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140073628..140083656hg38UCSC Ensembl
Innerchr4:140073628..140083656hg38UCSC Ensembl
Outerchr4:140073128..140084156hg38UCSC Ensembl
chr4:140994782..141004810hg19UCSC Ensembl
Innerchr4:140994782..141004810hg19UCSC Ensembl
Outerchr4:140994282..141005310hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3810029
hg1910029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11634647
SamplesNA19390
Known GenesMAML3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602447
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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