A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673199



Internal ID9939304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35761454..35762416hg38UCSC Ensembl
chr13:36335591..36336553hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38963
hg19963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv347e199
Supporting Variantsessv5434381, essv6457509, essv6571597, essv6565000, essv5892087, essv5653834, essv5483688, essv5421857, essv5749039, essv6086809, essv5845485, essv6590220, essv5818081, essv6489605, essv5802318, essv6450201, essv6559343, essv5926467, essv6279970, essv5750122, essv5562437, essv6218685, essv6080876, essv5790692, essv5662596, essv5765587, essv5524980, essv5768567, essv5864509, essv5437431, essv5528600, essv5960105, essv6286002, essv6262173, essv6156059, essv5639825, essv5493171
SamplesHG00403, HG00650, HG00242, HG01066, NA18486, NA18988, HG00663, NA19068, NA20336, HG01080, HG00683, NA19087, HG00118, NA18990, NA18557, NA19908, HG01384, NA19084, HG00684, NA19453, HG00525, NA19321, NA19434, NA18950, HG00357, NA19444, NA07051, HG00607, NA19078, HG00123, NA19080, NA19900, NA18983, HG01082, NA18623, HG01097, NA18562
Known GenesMIR548F5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673199
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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