A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664430



Internal ID9583849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83922659..83923270hg38UCSC Ensembl
chr1:84388342..84388953hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5414736, essv5652979, essv6481504, essv5717836, essv6146126, essv6263214, essv5814523, essv5914591, essv6225451, essv5782895, essv6525351, essv5484154, essv6484339, essv6398218, essv5905565, essv5831850, essv5983049, essv5867864, essv5631456, essv5832224, essv6521081, essv5964057, essv5411918, essv6246179, essv5478655, essv5782922, essv5669523, essv5579117, essv5860540, essv6203156, essv6150730, essv6505923, essv5954011, essv5660710, essv5882005, essv5552792, essv6425324, essv6194141, essv5601282, essv6169922, essv6438244, essv6324173, essv5674912, essv5943497, essv6148373, essv5968126, essv6549501, essv5544763, essv5837636, essv6233808, essv5873409, essv5744334
SamplesNA19207, NA18870, NA12718, NA19436, NA18520, NA18871, NA19437, NA18501, NA19093, NA20535, NA11918, NA19455, NA19435, NA19338, HG01350, NA19461, NA19210, HG01204, NA19678, HG00280, HG00335, NA19257, NA20322, NA19467, HG01551, NA20586, NA12414, NA19914, NA18508, NA19239, HG01456, HG00638, NA07357, NA19440, NA20541, NA19684, HG01066, NA20760, NA20790, NA18486, HG00273, NA20818, NA19332, NA19394, NA20289, HG00311, NA11830, NA18917, HG00137, HG01462, NA07000, HG00312
Known GenesTTLL7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664430
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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