A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734230



Internal ID9968557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:33138187..33139762hg38UCSC Ensembl
Outerchr7:33177799..33179374hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381576
hg191576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927026, essv6869949, essv6881592, essv6715763, essv6948051, essv6762776, essv6907802, essv6746106, essv6694444, essv6794900, essv6878774, essv6964116, essv6671466, essv6757556, essv6684201, essv6935008, essv6743335, essv6737144, essv6896914, essv6841468, essv6687438, essv6830385, essv6731107, essv6690692, essv6740206, essv6957416, essv6705176, essv6875917, essv6865851, essv6952153, essv6705245, essv6723475, essv6963317
SamplesSSM059, SSM036, SSM071, SSM027, SSM024, SSM045, SSM093, SSM050, SSM092, SSM084, SSM090, SSM021, SSM047, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM031, SSM014, SSM006, SSM081, SSM040, SSM053, SSM037, SSM055, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052
Known GenesBBS9
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)esv2734230
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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