A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658376



Internal ID9924481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54174622..54174733hg38UCSC Ensembl
chr19:54678316..54678427hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5440826, essv6348906, essv6157437, essv6449883, essv6565283, essv6308013, essv6268944, essv6096390, essv5570654, essv5838059, essv5414764, essv6404983, essv5561422, essv5621087, essv6207803, essv5965183, essv5676591, essv6184528, essv6461663, essv5650562, essv6113861, essv6096188, essv5719592, essv5604156, essv6295849, essv5753288, essv5625948, essv6086119, essv5456401, essv6232261, essv6184067, essv5396525, essv6189283, essv5865831, essv6441005
SamplesHG00189, HG00608, HG00671, NA18592, HG01374, HG00449, HG00654, HG00663, NA18563, NA18944, NA18550, HG00702, NA18617, NA19087, NA18638, NA18605, HG00282, HG00500, HG00619, NA18566, NA18573, NA19750, NA18532, HG00580, HG00607, HG00672, NA19779, NA18609, NA18552, HG00274, HG00472, NA18612, HG00437, NA18965, NA18577
Known GenesMBOAT7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658376
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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