A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665522



Internal ID9931627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4827318..4827502hg38UCSC Ensembl
chr10:4869510..4869694hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5530491, essv6220987, essv6227299, essv5689925, essv6179124, essv5983891, essv5914965, essv6562040, essv6403595, essv6184866, essv5425526, essv6299952, essv6019398, essv5785070, essv5966797, essv5649229, essv5797968, essv6385273, essv6351183, essv5454050, essv6380753, essv6560449, essv5592619, essv5657842, essv5579909, essv5977853, essv5852708, essv5920418, essv6397902, essv5878664, essv5561505, essv5817299, essv5633490, essv5639623, essv6328185, essv5548910, essv6418378, essv6440548, essv5506388, essv6048270, essv6301252, essv6150988, essv5658274, essv6592336, essv5690728, essv5481560, essv5772735, essv6185168, essv6056136, essv6188871, essv5757179, essv5408263, essv6377341, essv5638635, essv5470448, essv5697747, essv5636235, essv5432526, essv5772745
SamplesHG00626, HG00403, NA20766, NA11829, NA18565, NA18599, NA18545, NA18530, NA18606, HG00654, NA18526, NA18633, HG00693, NA18988, HG00337, HG01350, HG00689, NA20317, HG01492, HG00610, NA07347, HG00334, NA18964, NA18611, NA18560, NA18617, HG00326, NA18638, HG01187, NA20787, HG00428, HG00533, HG00583, HG00692, HG00740, NA19654, HG00613, NA19682, NA18576, NA18533, HG00285, NA18961, NA12775, NA20804, HG01375, NA19085, NA19818, NA19759, HG00111, NA18631, HG01055, NA18552, NA07056, HG00628, HG01097, NA18612, HG00180, NA20754, NA18577
Known GenesAKR1E2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665522
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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