A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665342



Internal ID9584761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5731358..5731914hg38UCSC Ensembl
chr7:5770989..5771545hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5440673, essv5749848, essv6257212, essv5578723, essv5476310, essv5915183, essv6154320, essv6364531, essv6259055, essv6457580, essv5732161, essv6450058, essv5450217, essv6271221, essv6486859, essv6594413, essv6115533, essv5961486, essv5914615, essv6371788, essv6035459, essv5631342, essv6182163, essv5424143, essv6280143, essv5577632, essv5438859, essv6032568, essv5996091, essv6030316, essv5401742, essv6327791, essv6471299, essv6564075, essv5697944, essv5599534, essv5494582, essv6064918, essv6184631, essv5862808, essv5404620, essv5810025, essv5454258, essv6537220, essv5691856, essv6230971, essv5474100, essv6505741, essv6453192, essv5981569, essv5418855, essv6016620, essv6140554, essv5776781, essv6531004, essv6469007
SamplesNA19137, NA18870, NA07347, NA19712, NA18520, NA20278, NA18933, NA18523, NA18570, NA19223, HG01079, NA18603, NA11931, NA19359, NA19379, NA19108, HG01551, NA18868, NA12414, NA18934, NA18508, NA12004, HG01048, NA19396, NA18592, NA18856, NA19397, NA19985, NA11894, NA20336, NA11995, NA18916, NA19457, NA20341, NA19324, NA12006, NA19395, NA19703, NA18923, NA19713, NA18858, NA18910, NA19382, NA19201, NA18867, NA20287, NA19818, NA11830, NA19225, NA19399, NA19204, NA18908, NA19381, NA19092, NA19385, NA18980
Known GenesRNF216
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665342
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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