A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671819



Internal ID9591238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88493086..88493346hg38UCSC Ensembl
chr16:88559494..88559754hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5798892, essv6132006, essv5838036, essv5510891, essv6079097, essv6229345, essv5915408, essv6050033, essv6202561, essv5881445, essv5437513, essv5835086, essv6067139, essv5521237, essv5604419, essv5575348, essv6390368, essv6239809, essv6389955, essv6238338, essv6466167, essv5621665, essv5416419, essv6587347, essv5999730, essv6296855, essv5837298, essv5820759, essv5888077, essv5567423, essv6199699, essv5426722, essv5994852, essv6301067, essv5848704, essv5785960, essv5678647, essv5659439, essv5514120, essv5607498, essv6252075, essv5520763, essv5463739, essv6476127
SamplesNA18605, NA18530, NA18561, HG00437, HG01173, HG00464, HG00449, NA18603, HG01051, HG01174, NA18573, NA18542, HG00701, HG01101, HG00699, NA18557, NA18632, HG00342, HG00543, HG00321, HG00472, HG00692, HG00533, HG00125, NA18637, HG00237, HG00584, HG00620, HG01073, HG00282, HG00534, HG00525, NA18562, HG01060, HG00589, NA18582, HG00443, HG00138, NA18602, NA12003, HG00285, HG00422, NA18532, HG00278
Known GenesZFPM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671819
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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