A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599778



Internal ID6986823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17541726..17567580hg38UCSC Ensembl
Innerchr4:17541726..17567580hg38UCSC Ensembl
Outerchr4:17541226..17568080hg38UCSC Ensembl
chr4:17543349..17569203hg19UCSC Ensembl
Innerchr4:17543349..17569203hg19UCSC Ensembl
Outerchr4:17542849..17569703hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3825855
hg1925855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11361043, essv11361040, essv11361048, essv11361054, essv11361049, essv11361039, essv11361044, essv11361052, essv11361045, essv11361037, essv11361046, essv11361047, essv11361041, essv11361042, essv11361051, essv11361053, essv11361038, essv11361050
SamplesNA18745, NA18599, HG00449, HG02384, HG02185, HG00632, HG00422, NA19087, HG02178, HG02390, NA18534, NA18548, NA19001, HG01812, NA19072, NA18950, HG01801, HG02401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599778
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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