A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2731768

Internal ID9966086
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29741430..29812888hg38UCSC Ensembl
Outerchr6:29709207..29780665hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794388, essv6770729, essv6890151, essv6974686, essv6690362, essv6770730, essv6715438, essv6711770, essv6708355, essv6727965, essv6723165, essv6818148, essv6890153, essv6697875, essv6969292, essv6899624, essv6770728, essv6734302, essv6736915, essv6860745, essv6677733, essv6703232, essv6943290, essv6844840, essv6794421, essv6730810, essv6687188, essv6841184, essv6808333, essv6794399, essv6770732, essv6938916, essv6700993, essv6918680, essv6869626, essv6887511, essv6934642, essv6911259, essv6849032, essv6893446, essv6963630, essv6879486, essv6754470, essv6855143, essv6893445
SamplesSSM065, SSM022, SSM007, SSM027, SSM086, SSM006, SSM036, SSM084, SSM042, SSM078, SSM043, SSM088, SSM090, SSM035, SSM039, SSM045, SSM050, SSM097, SSM041, SSM005, SSM012, SSM100, SSM085, SSM017, SSM009, SSM028, SSM029, SSM047, SSM021, SSM002, SSM087, SSM038, SSM023, SSM075, SSM015, SSM049, SSM098, SSM058
Known GenesHCG4, HLA-F-AS1, IFITM4P, LOC554223
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2731768
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0

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