A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732625



Internal ID10316261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:119096306..119096655hg38UCSC Ensembl
Outerchr6:119417471..119417820hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6826665, essv6963857, essv6907666, essv6957145, essv6849256, essv6881489, essv6687323, essv6723307, essv6811391, essv6676657, essv6930524, essv6974922, essv6826489, essv6818337, essv6671223, essv6860964, essv6887078, essv6865686, essv6890297, essv6794741, essv6727200
SamplesSSM071, SSM027, SSM045, SSM046, SSM097, SSM088, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM020, SSM078, SSM080, SSM076, SSM010
Known GenesFAM184A
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)esv2732625
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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