A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728904



Internal ID10312540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:185221598..185222361hg38UCSC Ensembl
Outerchr4:186142752..186143515hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938639, essv6922740, essv6748476, essv6757161, essv6680080, essv6875433, essv6823421, essv6829856, essv6848563, essv6907137, essv6722918, essv6745667, essv6701499, essv6872462, essv6754241, essv6774308, essv6957884, essv6865177, essv6817768, essv6854689, essv6889872, essv6968978, essv6711518, essv6840905, essv6826037, essv6790164, essv6759759, essv6951538, essv6739659, essv6730546, essv6725976, essv6885208, essv6736695, essv6883947, essv6947464, essv6934311, essv6930101, essv6792221, essv6770447, essv6794325, essv6757320, essv6742855, essv6777832, essv6861819, essv6928706, essv6956404, essv6918395, essv6675976, essv6697680, essv6963111
SamplesSSM059, SSM008, SSM071, SSM027, SSM024, SSM045, SSM065, SSM087, SSM038, SSM097, SSM009, SSM050, SSM042, SSM002, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM026, SSM089, SSM017, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM081, SSM020, SSM007, SSM078, SSM053, SSM005, SSM080, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM052, SSM056, SSM012
Known GenesSNX25
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2728904
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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