A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665500



Internal ID9931605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128188721..128188875hg38UCSC Ensembl
chr12:128673266..128673420hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5845865, essv6480788, essv5889283, essv6435506, essv6269562, essv6117552, essv6277233, essv6442811, essv6002385, essv6374437, essv6272762, essv5679110, essv5456237, essv6180856, essv6533419, essv6024264, essv5607819, essv5395928, essv6250954, essv6436554, essv6310856, essv6107891, essv5471937, essv6447524, essv6412511, essv5445356, essv5740147, essv5909862, essv5978007, essv6331502, essv5728881, essv5720507, essv5825960, essv6007925, essv5967126, essv5397497, essv6286180, essv5476507, essv6191224, essv6157057, essv6449985, essv6301743, essv5589493, essv5836892, essv5934158, essv6527257, essv5510551, essv6581548, essv6534436, essv5481458, essv5645981, essv5701540, essv6164582, essv6107836, essv6017045, essv6041788, essv6470784, essv5850217, essv5779019, essv6014193, essv6467990, essv6104705, essv5695946
SamplesNA12717, NA19648, NA20543, NA20514, NA18507, NA12843, NA11933, NA20816, NA20512, NA12045, NA18596, NA20507, NA19067, NA18597, NA20589, HG00448, NA20540, HG01083, NA20513, NA11930, NA12156, NA20812, HG01072, NA19235, NA19471, NA12889, HG00309, NA20811, NA20757, HG00253, NA12777, NA18544, NA12489, NA20810, NA19788, NA20506, NA18871, NA18572, NA18534, NA20770, NA18537, NA20581, NA12829, NA20828, NA18952, NA20792, HG00237, NA20504, NA20803, HG00256, NA12347, NA20582, NA19713, NA18636, NA20786, NA20503, NA20502, NA07056, NA19004, HG00345, NA12890, NA18562, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665500
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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