A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671371



Internal ID9937476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102410270..102411730hg38UCSC Ensembl
chr14:102876607..102878067hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381461
hg191461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6584882, essv5860871, essv6052843, essv5913771, essv6249638, essv5750508, essv5704248, essv6198881, essv6041564, essv5872704, essv5874827, essv5633875, essv5920087, essv5580802, essv6581967, essv6568067, essv6030254, essv6060124, essv5645023, essv6420493, essv5657903, essv6030090, essv6334715, essv6142309, essv6034900, essv5868137, essv6341399, essv5405900, essv6467756, essv5554383, essv6568810, essv5936229, essv6348952, essv5663044, essv6116051, essv5821093, essv6176264, essv5912714, essv6080911, essv6590368, essv6555309, essv5971183, essv5522009, essv5741858, essv5859279, essv5897360, essv6232714, essv6509203, essv6302536, essv6293570, essv5572805, essv5530178, essv5702423, essv5940186, essv5921070, essv6590260, essv5978251, essv5834154, essv5819620, essv5727592, essv5413305, essv5417196, essv5831480, essv6239573, essv5644182, essv6467353, essv6031247, essv5809141
SamplesNA19394, NA18947, NA20783, NA19704, HG00306, HG00244, NA18486, NA19777, NA19377, NA19190, NA18595, HG00173, NA18567, HG00610, NA11918, HG01354, NA18498, NA19384, NA18964, NA12275, HG01080, NA20518, NA19383, NA06984, NA11994, NA19901, HG00118, HG00637, NA19985, HG00253, HG00108, NA11831, HG00137, HG01136, NA19908, HG00266, NA19077, HG00556, HG00500, HG00263, NA18579, NA18534, NA20770, NA19084, NA19682, NA19756, NA18523, NA19395, NA18570, NA19436, NA19401, NA18909, NA18961, NA20276, NA12775, NA12046, NA19334, HG01489, NA06986, HG00259, NA19438, NA19716, NA19713, HG00123, NA19726, NA19780, HG01378, NA19004
Known GenesTECPR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671371
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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