A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746719



Internal ID10327689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35576518..35577364hg38UCSC Ensembl
Outerchr1:36042119..36042965hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710609, essv6889019, essv6895860, essv6950587, essv6921745, essv6917458, essv6825001, essv6679191, essv6722024, essv6780897, essv6877678, essv6729647, essv6747802, essv6769548, essv6961592, essv6847047, essv6804416, essv6813185, essv6718177, essv6699613, essv6929082, essv6839996, essv6725866, essv6914015, essv6832616, essv6748654, essv6714275
SamplesSSM008, SSM027, SSM045, SSM046, SSM065, SSM097, SSM039, SSM093, SSM074, SSM042, SSM084, SSM047, SSM018, SSM017, SSM044, SSM086, SSM033, SSM068, SSM082, SSM020, SSM016, SSM080, SSM077, SSM025, SSM099, SSM043, SSM056
Known GenesTFAP2E
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)esv2746719
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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