A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676349



Internal ID9942454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:35761605..35762518hg38UCSC Ensembl
Outerchr13:35761448..35762671hg38UCSC Ensembl
Innerchr13:36335742..36336655hg19UCSC Ensembl
Outerchr13:36335585..36336808hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv347e199
Supporting Variantsessv6528729, essv5955309, essv6360665, essv6173097, essv5619908, essv6388009, essv6045331, essv6382432, essv5896543, essv5827679, essv5420571, essv5561228, essv5427603, essv6403943, essv6337988, essv5828936, essv5454957, essv6490108, essv6211608, essv6401580, essv6297665, essv5727473, essv6046415, essv5584371, essv5470868, essv5929394, essv5688471, essv6481276, essv6503705, essv6391853, essv5604171, essv6175284, essv5778383, essv5746101, essv6592206, essv5667462, essv5532633, essv6370924, essv6041667, essv5943099, essv6361982
SamplesNA19701, NA19466, NA18861, NA18486, NA19355, NA19819, NA20332, NA19377, NA19443, NA12750, NA19374, NA19373, NA18923, NA19198, NA18498, NA19384, NA19130, NA19917, NA19901, NA19189, NA19445, NA19451, NA19908, NA19236, NA20344, NA18907, NA19449, NA18912, NA19625, NA19675, NA19834, NA19010, NA19835, NA19679, NA19439, NA19470, NA19467, NA19818, NA18501, NA19472, NA19093
Known GenesMIR548F5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676349
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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