A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600933



Internal ID6987972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70361841..70384178hg38UCSC Ensembl
Innerchr4:70361841..70384178hg38UCSC Ensembl
Outerchr4:70361341..70384678hg38UCSC Ensembl
chr4:71227558..71249895hg19UCSC Ensembl
Innerchr4:71227558..71249895hg19UCSC Ensembl
Outerchr4:71227058..71250395hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3822338
hg1922338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11494239, essv11494240, essv11494245, essv11494246, essv11494241, essv11494234, essv11494237, essv11494242, essv11494235, essv11494238, essv11494236, essv11494244, essv11494243
SamplesHG00542, NA18565, NA18603, HG01802, HG00622, HG02407, HG00867, HG00530, HG02390, NA18579, NA18564, HG01600, NA18623
Known GenesSMR3A, SMR3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600933
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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