A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722328



Internal ID10305964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210532957..210533793hg38UCSC Ensembl
Outerchr1:210706301..210707137hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733608, essv6703999, essv6738970, essv6914122, essv6950714, essv6749998, essv6753638, essv6951662, essv6921903, essv6878176, essv6918074, essv6972641, essv6954999, essv6729779, essv6917599, essv6745070, essv6696865, essv6880548, essv6840116, essv6720076, essv6773602, essv6678598, essv6759188, essv6933470, essv6750736, essv6968104, essv6714404, essv6925839, essv6832735, essv6742279, essv6811820, essv6786031, essv6817976, essv6902691, essv6777085, essv6769688, essv6816788, essv6910212, essv6747917, essv6961800, essv6801752, essv6853478, essv6679334, essv6929232, essv6844018, essv6871845, essv6736107, essv6874836, essv6764289
SamplesSSM008, SSM027, SSM065, SSM087, SSM013, SSM009, SSM073, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM029, SSM026, SSM017, SSM019, SSM094, SSM003, SSM067, SSM001, SSM033, SSM066, SSM006, SSM085, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM010, SSM091, SSM055, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesHHAT
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)esv2722328
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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