A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv400e199



Internal ID22758173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73487004..73487380hg38UCSC Ensembl
chr14:73953709..73954085hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662160, esv2677978
SamplesHG00626, HG00650, HG01356, HG00536, NA19397, HG00608, HG00671, NA18980, HG01066, NA18999, NA19393, NA18526, HG01051, HG00261, HG00693, HG00663, NA19396, NA19076, NA19379, NA18944, HG00589, HG00501, HG00702, HG00689, HG00448, NA18635, NA20756, NA18567, NA18558, NA18574, NA12283, HG01083, HG00334, NA20513, HG00537, NA19130, HG00590, NA12282, HG00683, HG01170, NA18977, NA18560, NA18990, NA18557, NA18985, HG00419, HG00253, NA19007, NA18544, NA18613, HG00443, NA19070, HG00475, HG00556, HG00583, NA18534, HG00708, HG01390, HG00613, HG00321, NA12827, HG00704, NA18536, HG01075, NA20765, NA18608, NA19375, NA18632, HG00580, NA07051, HG01357, HG00473, HG00418, HG00620, NA19376, HG00707, HG00672, HG00259, HG00656, HG00342, HG00698, NA18552, HG01377, HG00472, NA18624, NA18549, HG00437, NA18562, HG00581, NA18577, NA18620
Known GenesHEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv400e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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