A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668690



Internal ID9588109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11880080..11880392hg38UCSC Ensembl
chr18:11880079..11880391hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6004860, essv5769437, essv5426644, essv5839529, essv6295978, essv5842544, essv6172459, essv5713879, essv6279506, essv6354690, essv6344174, essv5663790, essv5447324, essv5894373, essv5593490, essv6027912, essv6191276, essv6471920, essv5420806, essv6163314, essv6238245, essv6318069, essv6063717, essv5838979, essv6193069, essv5628662, essv5886917, essv5895981, essv5899533, essv6580165, essv6412718, essv6161166, essv5614473, essv5903438, essv5436777, essv6474181, essv5450758, essv5506820, essv5956210, essv6366250, essv5824200, essv6428364, essv6298234, essv6236040, essv6218921
SamplesHG01357, HG00613, NA19625, HG00537, HG01359, NA18605, HG00607, NA18530, HG00705, HG00437, HG00500, NA19072, NA18545, HG00428, HG00542, NA18542, HG00651, HG00699, NA18557, NA19077, HG00543, NA18635, NA18623, HG00689, NA19055, NA18633, HG01073, HG01351, HG00534, HG00589, NA18606, NA18543, NA18940, HG00590, HG00608, HG01390, HG00281, HG00708, NA18532, NA18549, NA18574, HG00671, NA19087, HG00704, HG00278
Known GenesGNAL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668690
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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