A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667680



Internal ID9933785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167976185..167976636hg38UCSC Ensembl
chr6:168376865..168377316hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5790818, essv5744452, essv5635659, essv5747343, essv5846172, essv6118249, essv5873309, essv6269993, essv5512090, essv6538479, essv6345033, essv5514953, essv6573957, essv5726827, essv5858707, essv5739936, essv6511093, essv6263429, essv5781455, essv5653300, essv5685736, essv5404398, essv6437952, essv6042647, essv5659044, essv5968971, essv5668302, essv6260996, essv5835392, essv5618834, essv5951609, essv6560441, essv6102524, essv5518513, essv5665123, essv5569419, essv6351209, essv6110884, essv6189607, essv6176490, essv5869766, essv5446550, essv5685534, essv6572378, essv6363008, essv6139724, essv6597876, essv6102274, essv5666775, essv6596354, essv5870537, essv5816963, essv6192856, essv6584686, essv5478857, essv5616347, essv5889495, essv6113928, essv6144777, essv5783595, essv6536976, essv6059947, essv5629006, essv6065435
SamplesHG00650, HG00542, NA19055, NA18621, HG00671, HG00524, HG01052, NA18599, HG01066, NA18530, NA18633, HG00663, HG01350, HG00589, HG00702, HG01354, HG01365, NA18964, HG00537, NA18611, HG00512, HG00277, HG00705, NA18973, NA18614, NA18544, HG00443, HG00282, HG00557, NA19077, HG00653, HG00533, HG00619, HG00692, HG00284, HG00651, HG00531, HG00479, HG00684, HG00613, HG00525, NA18536, HG00246, NA18576, NA18632, NA18543, NA18564, HG00580, HG01174, NA19083, HG00662, HG00418, NA18610, HG00339, HG00672, HG00421, HG00656, HG00698, NA18989, NA18612, NA18549, HG00581, NA18577, NA18620
Known GenesHGC6.3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667680
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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