A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677874



Internal ID9597293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30918653..30918793hg38UCSC Ensembl
chr6:30886430..30886570hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6137103, essv5910050, essv5943569, essv5752130, essv6066725, essv6033622, essv5821081, essv6564500, essv5495805, essv6571613, essv5556991, essv6047609, essv6240256, essv5815575, essv5931551, essv6513018, essv6206279, essv6097231, essv6502395, essv6506131, essv5422174, essv6574505, essv5467454, essv6326153, essv6236399, essv6164993, essv6411676, essv6367172, essv6232938, essv6153922, essv5688633, essv5440291, essv5838882, essv6321492, essv5741792, essv5953967, essv6498587, essv6108547, essv5962166, essv5411386, essv5562592, essv5708260, essv6485197, essv6441133, essv6196144, essv6339876, essv6005835, essv6048606, essv6285787, essv6041984, essv5697793, essv6064630, essv5479685, essv5525247, essv6428320, essv6167617, essv6460520, essv5838590, essv6032184, essv5708124, essv5710871, essv5871498, essv6523442
SamplesHG00380, HG00309, NA12154, HG01440, HG00257, NA20506, NA12342, NA07056, NA18501, NA11918, NA19469, NA18603, NA18948, HG00117, HG00428, NA18507, HG01101, NA19355, NA12044, HG00339, NA18624, HG00421, HG00259, HG00096, NA07357, NA18623, NA19444, NA20783, NA20807, HG00315, NA12761, NA20541, NA11894, NA20520, NA11995, HG00284, HG00114, NA12751, HG00306, NA19172, NA20536, NA19384, NA20826, NA19657, HG01069, NA11892, NA18564, HG01070, HG00120, NA12891, NA10851, NA20537, HG00580, NA12878, NA11992, NA20758, HG00251, NA12717, NA18532, HG00137, HG00336, HG00345, NA19385
Known GenesVARS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677874
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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