A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2665342

Internal ID9584761
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5731358..5731914hg38UCSC Ensembl
chr7:5770989..5771545hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2665342
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0

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