A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600518



Internal ID6987560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53201962..53215948hg38UCSC Ensembl
chr4:54068129..54082115hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3813987
hg1913987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11434688, essv11434696, essv11434694, essv11434680, essv11434689, essv11434692, essv11434685, essv11434687, essv11434684, essv11434686, essv11434682, essv11434691, essv11434699, essv11434701, essv11434681, essv11434683, essv11434697, essv11434690, essv11434693, essv11434698, essv11434700, essv11434679, essv11434695
SamplesHG03096, HG02944, HG03484, HG03057, NA18881, HG03449, NA20346, HG02888, HG02769, HG02952, NA18874, HG02642, NA18520, HG03088, HG01880, HG03202, NA18853, NA19206, NA18909, NA19144, NA18987, HG03445, HG03072
Known GenesSCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600518
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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