A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600316



Internal ID6987360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40675085..40676127hg38UCSC Ensembl
Innerchr4:40675305..40676067hg38UCSC Ensembl
Outerchr4:40674839..40676373hg38UCSC Ensembl
chr4:40677102..40678144hg19UCSC Ensembl
Innerchr4:40677322..40678084hg19UCSC Ensembl
Outerchr4:40676856..40678390hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11404797, essv11404798, essv11404817, essv11404809, essv11404803, essv11404812, essv11404804, essv11404813, essv11404815, essv11404805, essv11404806, essv11404816, essv11404818, essv11404800, essv11404802, essv11404808, essv11404810, essv11404814, essv11404811, essv11404799, essv11404801, essv11404807, essv11404819
SamplesNA19028, NA19204, NA19020, NA18917, NA19393, HG03100, NA20346, NA19446, HG01325, HG03189, NA19137, NA19235, HG03511, NA19462, HG02953, NA19225, NA19095, HG01990, NA19309, NA19360, HG03157, NA19223, HG03410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600316
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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