A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734253



Internal ID10317889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36312680..36313380hg38UCSC Ensembl
Outerchr7:36352289..36352989hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830389, essv6727348, essv6935012, essv6730453, essv6760219, essv6889921, essv6737148, essv6930718, essv6969706, essv6754736, essv6957428, essv6855588, essv6875920, essv6743339, essv6712068, essv6969635, essv6762953, essv6715766, essv6723478, essv6901952, essv6827710, essv6952156, essv6771063, essv6930700, essv6919102, essv6915265, essv6680617
SamplesSSM008, SSM045, SSM046, SSM065, SSM087, SSM050, SSM042, SSM002, SSM058, SSM028, SSM092, SSM021, SSM061, SSM026, SSM017, SSM003, SSM001, SSM033, SSM081, SSM020, SSM007, SSM016, SSM053, SSM010, SSM025, SSM043, SSM012
Known Genes
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)esv2734253
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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