A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602039



Internal ID6989073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123037781..123082215hg38UCSC Ensembl
Innerchr4:123037788..123082208hg38UCSC Ensembl
Outerchr4:123037774..123082222hg38UCSC Ensembl
chr4:123958936..124003370hg19UCSC Ensembl
Innerchr4:123958943..124003363hg19UCSC Ensembl
Outerchr4:123958929..124003377hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3844435
hg1944435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1022e214
Supporting Variantsessv11591348, essv11591346, essv11591347
SamplesHG01098, HG00740, HG01161
Known GenesSPATA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602039
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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