A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600287



Internal ID6640551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39582338..39587674hg38UCSC Ensembl
Innerchr4:39582338..39587674hg38UCSC Ensembl
Outerchr4:39582143..39587946hg38UCSC Ensembl
chr4:39583958..39589294hg19UCSC Ensembl
Innerchr4:39583958..39589294hg19UCSC Ensembl
Outerchr4:39583763..39589566hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg385337
hg195337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11401392, essv11401388, essv11401389, essv11401381, essv11401390, essv11401386, essv11401393, essv11401387, essv11401395, essv11401383, essv11401385, essv11401384, essv11401394, essv11401382, essv11401391
SamplesHG03514, NA18924, HG03172, HG02888, HG03040, HG02981, HG02882, NA19236, HG02322, HG03027, HG03354, HG02896, HG03376, NA18522, NA19214
Known GenesMIR1273H, SMIM14, UGDH-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600287
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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