A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657963



Internal ID9924068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183464193..183464445hg38UCSC Ensembl
chr4:184385346..184385598hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5596672, essv6123193, essv5617751, essv5513152, essv5400129, essv5399727, essv5674250, essv6455292, essv6416677, essv6314506, essv6040643, essv6575221, essv6399053, essv6377001, essv5611354, essv6279927, essv5441005, essv6360482, essv5815548, essv5757332, essv6103353, essv6161985, essv5433752, essv6393895, essv5712912, essv5862515, essv6564947, essv5567032, essv5645283, essv5676514, essv6102198, essv5885571, essv5548427, essv6117773, essv6548142, essv5660183, essv6070630, essv5602666, essv6571001, essv5840253, essv5999216, essv5941265, essv6200499, essv6017153, essv5695519, essv6471383, essv5963940, essv6576141, essv5532885, essv5444056, essv6195743, essv5707481, essv5914584, essv5774604, essv6548887, essv6073863, essv5804441, essv6593409, essv5923036, essv5547499, essv5808310, essv6577341
SamplesHG00650, HG00442, HG00536, HG00524, NA19355, HG00654, HG00663, NA19379, NA18550, HG00501, NA18597, NA18635, NA19457, HG00512, HG00281, HG00705, HG00338, HG00530, HG00464, HG00108, HG00543, HG00313, HG01171, NA19403, HG00557, HG00328, HG00701, HG00657, NA19391, HG00436, HG00583, NA18637, HG00619, HG00651, HG00373, HG00479, HG00613, HG01334, HG00276, HG00463, NA18536, NA18570, NA18546, NA18632, HG00136, HG00620, HG00125, HG00614, HG00513, HG00478, HG00342, NA18636, HG00310, HG00698, HG00343, HG00252, HG01377, NA18624, NA18623, HG00437, HG00581, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657963
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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