A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678878

Internal ID9598297
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6300524..6300639hg38UCSC Ensembl
chr1:6360584..6360699hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6406490, essv5713936, essv5953943, essv5881636, essv6501160, essv6134833, essv5829830, essv5889294, essv6106893, essv6349142, essv6430960, essv5646124, essv6274070, essv5929484, essv5581840, essv5832694, essv6252739, essv5616662, essv5960431, essv6002646, essv5874369, essv6490833, essv6021622, essv6580549, essv5740501, essv6055933, essv5655032, essv6502128, essv6425276, essv6061635, essv6126119, essv6075688, essv5445152, essv5566219, essv6433661, essv6301497, essv6356107, essv5629280, essv5573056, essv6206653, essv5933190, essv5770630, essv6251253, essv6320069, essv6209670, essv5590205, essv5603474, essv6440921, essv6068092, essv6353190, essv5912815, essv5774476, essv6476379, essv6517152, essv6331114, essv6522014
SamplesNA12154, NA20787, NA18520, NA19819, NA20752, NA18570, NA19788, NA19920, NA12058, NA20539, NA19834, NA18963, NA07051, NA19004, HG00146, NA19780, NA18873, HG01521, NA19067, NA19982, NA20533, HG00250, HG00421, NA19057, NA20757, NA20783, HG00692, HG00689, NA12400, NA19835, NA19055, NA19213, NA19676, NA20769, HG00436, NA07346, NA18486, NA18986, HG00513, NA18988, NA19707, NA18987, NA18599, NA18565, NA11830, NA19064, NA19916, NA18984, NA19350, NA20524, NA18615, HG00143, NA19007, NA19065, HG01354, NA19439
Known GenesACOT7
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2678878
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer