A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670091



Internal ID9936196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38229609..38230122hg38UCSC Ensembl
chr22:38625615..38626128hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5400390, essv5421532, essv5586436, essv5738118, essv5693369, essv6386572, essv6523388, essv5464455, essv6286557, essv5515372, essv5714613, essv5869623, essv5969438, essv5980225, essv5868079, essv6368405, essv5874080, essv5869909, essv6179598, essv5600170, essv5540914, essv5519453, essv5470343, essv6427489, essv6107915, essv5830688, essv6532457, essv5626362, essv6266025, essv5981087, essv5996904, essv6062387, essv5845862, essv5653703, essv6579893
SamplesHG00442, HG00559, NA18561, NA18602, NA18944, NA18595, HG00448, HG00173, HG01365, NA18611, HG00253, NA18638, HG00543, NA19707, HG00657, HG00344, NA18637, HG00500, HG00619, HG00692, NA18548, HG00651, NA18536, NA18576, NA18546, HG00258, HG00476, HG00375, HG00357, HG00278, HG00125, HG00329, HG00342, HG01061, HG00437
Known GenesTMEM184B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670091
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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