A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744128



Internal ID9978412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:14326750..14327085hg38UCSC Ensembl
Outerchr11:14348296..14348631hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838458, essv6684921, essv6850904, essv6970621, essv6976844, essv6812089, essv6912426, essv6862175, essv6795863, essv6672877, essv6891111, essv6965502, essv6864198, essv6706060, essv6819494, essv6866917, essv6908678, essv6879359, essv6688137, essv6677647, essv6958994, essv6823461
SamplesSSM027, SSM086, SSM040, SSM078, SSM088, SSM089, SSM031, SSM035, SSM071, SSM032, SSM083, SSM097, SSM093, SSM011, SSM028, SSM029, SSM034, SSM079, SSM015, SSM026, SSM014, SSM076
Known GenesRRAS2
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)esv2744128
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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