A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2664430

Internal ID9583849
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83922659..83923270hg38UCSC Ensembl
chr1:84388342..84388953hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2664430
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0

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