A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678878



Internal ID9598297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6300524..6300639hg38UCSC Ensembl
chr1:6360584..6360699hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38116
hg19116
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, essv6252739, essv5832694, essv5960431, essv5616662, essv6002646, essv5874369, essv6490833, essv6021622, essv6580549, essv5740501, essv6055933, essv5655032, essv6502128, essv6425276, essv6061635, essv6126119, essv6075688, essv5445152, essv5566219, essv6433661, essv6301497, essv6356107, essv5629280, essv5573056, essv6206653, essv5933190, essv5770630, essv6320069, essv6251253, essv5590205, essv6209670, 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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678878
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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