A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602433



Internal ID6989467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139236606..139240789hg38UCSC Ensembl
Innerchr4:139236632..139240763hg38UCSC Ensembl
Outerchr4:139236580..139240815hg38UCSC Ensembl
chr4:140157760..140161943hg19UCSC Ensembl
Innerchr4:140157786..140161917hg19UCSC Ensembl
Outerchr4:140157734..140161969hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg384184
hg194184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11632908, essv11632907, essv11632904, essv11632902, essv11632903, essv11632905, essv11632906
SamplesNA20882, HG02734, NA20900, HG02490, HG04238, HG03871, HG03898
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602433
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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